AustralieFrV1, Main, Exploration, bibRecord, 008A12

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Identifieur interne : 008A12 ( Main/Exploration ); précédent : 008A11; suivant : 008A13

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Auteurs : Guy Froyen [Belgique] ; Mark Corbett [Australie] ; Joke Vandewalle [Belgique] ; Irma Jarvela [Finlande] ; Owen Lawrence [Australie] ; Cliff Meldrum [Australie] ; Marijke Bauters [Belgique] ; Karen Govaerts [Belgique] ; Lucianne Vandeleur [Australie] ; Hilde Van Esch [Belgique] ; Jamel Chelly [France] ; Damien Sanlaville [France] ; Hans Van Bokhoven [Pays-Bas] ; Hans-Hilger Ropers [Allemagne] ; Frederic Laumonnier [France] ; Enzo Ranieri [Australie] ; Charles E. Schwartz [États-Unis] ; Fatima Abidi [États-Unis] ; Patrick S. Tarpey [Royaume-Uni] ; P. Andrew Futreal [Royaume-Uni] ; Annabel Whibley [Royaume-Uni] ; F. Lucy Raymond [Royaume-Uni] ; Michael R. Stratton [Royaume-Uni] ; Jean-Pierre Fryns [Belgique] ; Rodney Scott [Australie] ; Maarit Peippo [Finlande] ; Marjatta Sipponen [Finlande] ; Michael Partington [Australie] ; David Mowat [Australie] ; Michael Field [Australie] ; Anna Hackett [Australie] ; Peter Marynen [Belgique] ; Gillian Turner [Australie] ; Jozef Gecz [Australie]

Source :

American journal of human genetics [ 0002-9297 ] ; 2008.

RBID : Pascal:08-0160921

Descripteurs français

Pascal (Inist)
- Arriération mentale, Duplication chromosomique, Dehydrogenase, Ubiquitine, Ligases, Association, Génétique, Homme.
Wicri :
- topic : Association, Génétique, Homme.

English descriptors

KwdEn :
- Association, Chromosome duplication, Dehydrogenase, Genetics, Human, Ligases, Mental retardation, Ubiquitin.

Abstract

Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in six unrelated families with predominantly nonsyndromic XLMR. All duplications segregate with the disease, including the large families MRX17 and MRX31. The minimal, commonly duplicated region contains three genes: RIBC1, HSD17B10, and HUWE1. RIBC1 could be excluded on the basis of its absence of expression in the brain and because it escapes X inactivation in females. For the other genes, expression array and quantitative PCR analysis in patient cell lines compared to controls showed a significant upregulation of HSD17B10 and HUWE1 as well as several important genes in their molecular pathways. Loss-of-function mutations of HSD17B10 have previously been associated with progressive neurological disease and XLMR. The E3 ubiquitin ligase HUWE1 has been implicated in TP53-associated regulation of the neuronal cell cycle. Here, we also report segregating sequence changes of highly conserved residues in HUWE1 in three XLMR families; these changes are possibly associated with the phenotype. Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2426915

Affiliations:

Allemagne, Australie, Belgique, Finlande, France, Pays-Bas, Royaume-Uni, États-Unis
Berlin, Gueldre, Province du Brabant flamand, Uusimaa, Île-de-France
Berlin, Helsinki, Louvain, Nimègue, Paris
Université Paris-Descartes, Université d'Helsinki

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation</title>
<author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vandewalle, Joke" sort="Vandewalle, Joke" uniqKey="Vandewalle J" first="Joke" last="Vandewalle">Joke Vandewalle</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jarvela, Irma" sort="Jarvela, Irma" uniqKey="Jarvela I" first="Irma" last="Jarvela">Irma Jarvela</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Laboratory of Molecular Genetics, Helsinki University Central Hospital (Laboratory Services)</s1>
<s2>00290 Helsinki</s2>
<s3>FIN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<wicri:noRegion>00290 Helsinki</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of Helsinki</s1>
<s2>00290 Helsinki</s2>
<s3>FIN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
<orgName type="university">Université d'Helsinki</orgName>
</affiliation>
</author>
<author><name sortKey="Lawrence, Owen" sort="Lawrence, Owen" uniqKey="Lawrence O" first="Owen" last="Lawrence">Owen Lawrence</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Molecular Genetics Laboratory HAPS, John Hunter Hospital</s1>
<s2>Newcastle NSW 2305</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Newcastle NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Meldrum, Cliff" sort="Meldrum, Cliff" uniqKey="Meldrum C" first="Cliff" last="Meldrum">Cliff Meldrum</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Molecular Genetics Laboratory HAPS, John Hunter Hospital</s1>
<s2>Newcastle NSW 2305</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Newcastle NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bauters, Marijke" sort="Bauters, Marijke" uniqKey="Bauters M" first="Marijke" last="Bauters">Marijke Bauters</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Govaerts, Karen" sort="Govaerts, Karen" uniqKey="Govaerts K" first="Karen" last="Govaerts">Karen Govaerts</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vandeleur, Lucianne" sort="Vandeleur, Lucianne" uniqKey="Vandeleur L" first="Lucianne" last="Vandeleur">Lucianne Vandeleur</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>University Hospital Leuven, Department of Human Genetics, University of Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>10 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Institut Cochin, Université Paris Descartes, CNRS (UMR 8104)</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Inserm, U567</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Genetic Department, Necker Enfants Malades Hospital</s1>
<s2>75935 Paris</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Human Genetics, University Medical Centre</s1>
<s2>6500 Nijmegen</s2>
<s3>NLD</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Max-Planck Institute for Molecular Genetics</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laumonnier, Frederic" sort="Laumonnier, Frederic" uniqKey="Laumonnier F" first="Frederic" last="Laumonnier">Frederic Laumonnier</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>INSERM, U619, Centre Hospitalier Universitaire Bretonneau, Université François Rabelais</s1>
<s2>37044 Tours</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>37044 Tours</wicri:noRegion>
<wicri:noRegion>Université François Rabelais</wicri:noRegion>
<wicri:noRegion>37044 Tours</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ranieri, Enzo" sort="Ranieri, Enzo" uniqKey="Ranieri E" first="Enzo" last="Ranieri">Enzo Ranieri</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Greenwood Genetic Center, JC Self Research Institute of Human Genetics</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Greenwood, SC 29646</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Abidi, Fatima" sort="Abidi, Fatima" uniqKey="Abidi F" first="Fatima" last="Abidi">Fatima Abidi</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Greenwood Genetic Center, JC Self Research Institute of Human Genetics</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Greenwood, SC 29646</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>The Wellcome Trust Sanger Institute</s1>
<s2>Hinxton CB10 ISA</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>The Wellcome Trust Sanger Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P. Andrew" last="Futreal">P. Andrew Futreal</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>The Wellcome Trust Sanger Institute</s1>
<s2>Hinxton CB10 ISA</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>The Wellcome Trust Sanger Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Whibley, Annabel" sort="Whibley, Annabel" uniqKey="Whibley A" first="Annabel" last="Whibley">Annabel Whibley</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Cambridge Institute of Medical Research</s1>
<s2>Cambridge CB2 2XY</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F. Lucy" last="Raymond">F. Lucy Raymond</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Cambridge Institute of Medical Research</s1>
<s2>Cambridge CB2 2XY</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R." last="Stratton">Michael R. Stratton</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>The Wellcome Trust Sanger Institute</s1>
<s2>Hinxton CB10 ISA</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>The Wellcome Trust Sanger Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>University Hospital Leuven, Department of Human Genetics, University of Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>10 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scott, Rodney" sort="Scott, Rodney" uniqKey="Scott R" first="Rodney" last="Scott">Rodney Scott</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Molecular Genetics Laboratory HAPS, John Hunter Hospital</s1>
<s2>Newcastle NSW 2305</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Newcastle NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Peippo, Maarit" sort="Peippo, Maarit" uniqKey="Peippo M" first="Maarit" last="Peippo">Maarit Peippo</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>The Family Federation of Finland</s1>
<s2>00101 Helsinki</s2>
<s3>FIN</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<wicri:noRegion>The Family Federation of Finland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sipponen, Marjatta" sort="Sipponen, Marjatta" uniqKey="Sipponen M" first="Marjatta" last="Sipponen">Marjatta Sipponen</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>The Family Federation of Finland</s1>
<s2>00101 Helsinki</s2>
<s3>FIN</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<wicri:noRegion>The Family Federation of Finland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Genetics, Sydney Children's Hospital</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>New South Wales NSW 2308</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Pediatrics and School of Molecular and Biomedical Science, University of Adelaide</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">08-0160921</idno>
<date when="2008">2008</date>
<idno type="stanalyst">PASCAL 08-0160921 INIST</idno>
<idno type="RBID">Pascal:08-0160921</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">003682</idno>
<idno type="stanalyst">FRANCIS 08-0160921 INIST</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">003866</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002960</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002E78</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">002E78</idno>
<idno type="wicri:doubleKey">0002-9297:2008:Froyen G:submicroscopic:duplications:of</idno>
<idno type="wicri:Area/Main/Merge">009292</idno>
<idno type="wicri:source">PMC</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2426915</idno>
<idno type="RBID">PMC:2426915</idno>
<idno type="wicri:Area/Pmc/Corpus">001701</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001701</idno>
<idno type="wicri:Area/Pmc/Curation">001561</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001561</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002912</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002912</idno>
<idno type="wicri:Area/Ncbi/Merge">000338</idno>
<idno type="wicri:Area/Ncbi/Curation">000338</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000338</idno>
<idno type="wicri:doubleKey">0002-9297:2008:Froyen G:submicroscopic:duplications:of</idno>
<idno type="wicri:Area/Main/Merge">008D73</idno>
<idno type="wicri:Area/Main/Curation">008A12</idno>
<idno type="wicri:Area/Main/Exploration">008A12</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation</title>
<author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vandewalle, Joke" sort="Vandewalle, Joke" uniqKey="Vandewalle J" first="Joke" last="Vandewalle">Joke Vandewalle</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jarvela, Irma" sort="Jarvela, Irma" uniqKey="Jarvela I" first="Irma" last="Jarvela">Irma Jarvela</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Laboratory of Molecular Genetics, Helsinki University Central Hospital (Laboratory Services)</s1>
<s2>00290 Helsinki</s2>
<s3>FIN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<wicri:noRegion>00290 Helsinki</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of Helsinki</s1>
<s2>00290 Helsinki</s2>
<s3>FIN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
<orgName type="university">Université d'Helsinki</orgName>
</affiliation>
</author>
<author><name sortKey="Lawrence, Owen" sort="Lawrence, Owen" uniqKey="Lawrence O" first="Owen" last="Lawrence">Owen Lawrence</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Molecular Genetics Laboratory HAPS, John Hunter Hospital</s1>
<s2>Newcastle NSW 2305</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Newcastle NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Meldrum, Cliff" sort="Meldrum, Cliff" uniqKey="Meldrum C" first="Cliff" last="Meldrum">Cliff Meldrum</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Molecular Genetics Laboratory HAPS, John Hunter Hospital</s1>
<s2>Newcastle NSW 2305</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Newcastle NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bauters, Marijke" sort="Bauters, Marijke" uniqKey="Bauters M" first="Marijke" last="Bauters">Marijke Bauters</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Govaerts, Karen" sort="Govaerts, Karen" uniqKey="Govaerts K" first="Karen" last="Govaerts">Karen Govaerts</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vandeleur, Lucianne" sort="Vandeleur, Lucianne" uniqKey="Vandeleur L" first="Lucianne" last="Vandeleur">Lucianne Vandeleur</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>University Hospital Leuven, Department of Human Genetics, University of Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>10 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Institut Cochin, Université Paris Descartes, CNRS (UMR 8104)</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Inserm, U567</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Genetic Department, Necker Enfants Malades Hospital</s1>
<s2>75935 Paris</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75935 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Human Genetics, University Medical Centre</s1>
<s2>6500 Nijmegen</s2>
<s3>NLD</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Max-Planck Institute for Molecular Genetics</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laumonnier, Frederic" sort="Laumonnier, Frederic" uniqKey="Laumonnier F" first="Frederic" last="Laumonnier">Frederic Laumonnier</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>INSERM, U619, Centre Hospitalier Universitaire Bretonneau, Université François Rabelais</s1>
<s2>37044 Tours</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>37044 Tours</wicri:noRegion>
<wicri:noRegion>Université François Rabelais</wicri:noRegion>
<wicri:noRegion>37044 Tours</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ranieri, Enzo" sort="Ranieri, Enzo" uniqKey="Ranieri E" first="Enzo" last="Ranieri">Enzo Ranieri</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Greenwood Genetic Center, JC Self Research Institute of Human Genetics</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Greenwood, SC 29646</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Abidi, Fatima" sort="Abidi, Fatima" uniqKey="Abidi F" first="Fatima" last="Abidi">Fatima Abidi</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Greenwood Genetic Center, JC Self Research Institute of Human Genetics</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Greenwood, SC 29646</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>The Wellcome Trust Sanger Institute</s1>
<s2>Hinxton CB10 ISA</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>The Wellcome Trust Sanger Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P. Andrew" last="Futreal">P. Andrew Futreal</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>The Wellcome Trust Sanger Institute</s1>
<s2>Hinxton CB10 ISA</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>The Wellcome Trust Sanger Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Whibley, Annabel" sort="Whibley, Annabel" uniqKey="Whibley A" first="Annabel" last="Whibley">Annabel Whibley</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Cambridge Institute of Medical Research</s1>
<s2>Cambridge CB2 2XY</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F. Lucy" last="Raymond">F. Lucy Raymond</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Cambridge Institute of Medical Research</s1>
<s2>Cambridge CB2 2XY</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R." last="Stratton">Michael R. Stratton</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>The Wellcome Trust Sanger Institute</s1>
<s2>Hinxton CB10 ISA</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>The Wellcome Trust Sanger Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>University Hospital Leuven, Department of Human Genetics, University of Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>10 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scott, Rodney" sort="Scott, Rodney" uniqKey="Scott R" first="Rodney" last="Scott">Rodney Scott</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Molecular Genetics Laboratory HAPS, John Hunter Hospital</s1>
<s2>Newcastle NSW 2305</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Newcastle NSW 2305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Peippo, Maarit" sort="Peippo, Maarit" uniqKey="Peippo M" first="Maarit" last="Peippo">Maarit Peippo</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>The Family Federation of Finland</s1>
<s2>00101 Helsinki</s2>
<s3>FIN</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<wicri:noRegion>The Family Federation of Finland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sipponen, Marjatta" sort="Sipponen, Marjatta" uniqKey="Sipponen M" first="Marjatta" last="Sipponen">Marjatta Sipponen</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>The Family Federation of Finland</s1>
<s2>00101 Helsinki</s2>
<s3>FIN</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<wicri:noRegion>The Family Federation of Finland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Genetics, Sydney Children's Hospital</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>New South Wales NSW 2308</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Human Genome Laboratory, Department of Human Genetics, K.U.Leuven</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The GOLD service Hunter Genetics University of Newcastle</s1>
<s2>New South Wales NSW 2308</s2>
<s3>AUS</s3>
<sZ>28 aut.</sZ>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The GOLD service Hunter Genetics University of Newcastle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Pediatrics and School of Molecular and Biomedical Science, University of Adelaide</s1>
<s2>Adelaide SA 5005</s2>
<s3>AUS</s3>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Adelaide SA 5005</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term>
<term>Chromosome duplication</term>
<term>Dehydrogenase</term>
<term>Genetics</term>
<term>Human</term>
<term>Ligases</term>
<term>Mental retardation</term>
<term>Ubiquitin</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Duplication chromosomique</term>
<term>Dehydrogenase</term>
<term>Ubiquitine</term>
<term>Ligases</term>
<term>Association</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in six unrelated families with predominantly nonsyndromic XLMR. All duplications segregate with the disease, including the large families MRX17 and MRX31. The minimal, commonly duplicated region contains three genes: RIBC1, HSD17B10, and HUWE1. RIBC1 could be excluded on the basis of its absence of expression in the brain and because it escapes X inactivation in females. For the other genes, expression array and quantitative PCR analysis in patient cell lines compared to controls showed a significant upregulation of HSD17B10 and HUWE1 as well as several important genes in their molecular pathways. Loss-of-function mutations of HSD17B10 have previously been associated with progressive neurological disease and XLMR. The E3 ubiquitin ligase HUWE1 has been implicated in TP53-associated regulation of the neuronal cell cycle. Here, we also report segregating sequence changes of highly conserved residues in HUWE1 in three XLMR families; these changes are possibly associated with the phenotype. Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Finlande</li>
<li>France</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Berlin</li>
<li>Gueldre</li>
<li>Province du Brabant flamand</li>
<li>Uusimaa</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Helsinki</li>
<li>Louvain</li>
<li>Nimègue</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université d'Helsinki</li>
</orgName>
</list>
<tree><country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name>
</region>
<name sortKey="Bauters, Marijke" sort="Bauters, Marijke" uniqKey="Bauters M" first="Marijke" last="Bauters">Marijke Bauters</name>
<name sortKey="Bauters, Marijke" sort="Bauters, Marijke" uniqKey="Bauters M" first="Marijke" last="Bauters">Marijke Bauters</name>
<name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name>
<name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<name sortKey="Govaerts, Karen" sort="Govaerts, Karen" uniqKey="Govaerts K" first="Karen" last="Govaerts">Karen Govaerts</name>
<name sortKey="Govaerts, Karen" sort="Govaerts, Karen" uniqKey="Govaerts K" first="Karen" last="Govaerts">Karen Govaerts</name>
<name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name>
<name sortKey="Marynen, Peter" sort="Marynen, Peter" uniqKey="Marynen P" first="Peter" last="Marynen">Peter Marynen</name>
<name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name>
<name sortKey="Vandewalle, Joke" sort="Vandewalle, Joke" uniqKey="Vandewalle J" first="Joke" last="Vandewalle">Joke Vandewalle</name>
<name sortKey="Vandewalle, Joke" sort="Vandewalle, Joke" uniqKey="Vandewalle J" first="Joke" last="Vandewalle">Joke Vandewalle</name>
</country>
<country name="Australie"><noRegion><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name>
</noRegion>
<name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name>
<name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name>
<name sortKey="Lawrence, Owen" sort="Lawrence, Owen" uniqKey="Lawrence O" first="Owen" last="Lawrence">Owen Lawrence</name>
<name sortKey="Meldrum, Cliff" sort="Meldrum, Cliff" uniqKey="Meldrum C" first="Cliff" last="Meldrum">Cliff Meldrum</name>
<name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name>
<name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name>
<name sortKey="Ranieri, Enzo" sort="Ranieri, Enzo" uniqKey="Ranieri E" first="Enzo" last="Ranieri">Enzo Ranieri</name>
<name sortKey="Scott, Rodney" sort="Scott, Rodney" uniqKey="Scott R" first="Rodney" last="Scott">Rodney Scott</name>
<name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
<name sortKey="Vandeleur, Lucianne" sort="Vandeleur, Lucianne" uniqKey="Vandeleur L" first="Lucianne" last="Vandeleur">Lucianne Vandeleur</name>
</country>
<country name="Finlande"><noRegion><name sortKey="Jarvela, Irma" sort="Jarvela, Irma" uniqKey="Jarvela I" first="Irma" last="Jarvela">Irma Jarvela</name>
</noRegion>
<name sortKey="Jarvela, Irma" sort="Jarvela, Irma" uniqKey="Jarvela I" first="Irma" last="Jarvela">Irma Jarvela</name>
<name sortKey="Peippo, Maarit" sort="Peippo, Maarit" uniqKey="Peippo M" first="Maarit" last="Peippo">Maarit Peippo</name>
<name sortKey="Sipponen, Marjatta" sort="Sipponen, Marjatta" uniqKey="Sipponen M" first="Marjatta" last="Sipponen">Marjatta Sipponen</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
</region>
<name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<name sortKey="Laumonnier, Frederic" sort="Laumonnier, Frederic" uniqKey="Laumonnier F" first="Frederic" last="Laumonnier">Frederic Laumonnier</name>
<name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
</region>
</country>
<country name="Allemagne"><region name="Berlin"><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
</region>
</country>
<country name="États-Unis"><noRegion><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
</noRegion>
<name sortKey="Abidi, Fatima" sort="Abidi, Fatima" uniqKey="Abidi F" first="Fatima" last="Abidi">Fatima Abidi</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name>
</noRegion>
<name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P. Andrew" last="Futreal">P. Andrew Futreal</name>
<name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F. Lucy" last="Raymond">F. Lucy Raymond</name>
<name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R." last="Stratton">Michael R. Stratton</name>
<name sortKey="Whibley, Annabel" sort="Whibley, Annabel" uniqKey="Whibley A" first="Annabel" last="Whibley">Annabel Whibley</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 008A12 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 008A12 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:08-0160921
   |texte=   Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.