Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
Identifieur interne : 006F91 ( Main/Exploration ); précédent : 006F90; suivant : 006F92Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
Auteurs : Ofir T. Betsalel [Pays-Bas] ; Efraim H. Rosenberg [Pays-Bas] ; Ligia S. Almeida [Pays-Bas, Portugal] ; Tjitske Kleefstra [Pays-Bas] ; Charles E. Schwartz [États-Unis] ; Vassili Valayannopoulos [France] ; Omar Abdul-Rahman [États-Unis] ; Nicola Poplawski [Australie] ; Laura Vilarinho [Portugal] ; Philipp Wolf [Allemagne] ; Johan T. Den Dunnen [Pays-Bas] ; Cornelis Jakobs [Pays-Bas] ; Gajja S. Salomons [Pays-Bas]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2010.
Abstract
The X-linked creatine transporter defect is caused by mutations in the
Url:
DOI: 10.1038/ejhg.2010.134
PubMed: 20717164
PubMed Central: 3039501
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000056
- to stream Pmc, to step Curation: 000056
- to stream Pmc, to step Checkpoint: 002631
- to stream Ncbi, to step Merge: 000856
- to stream Ncbi, to step Curation: 000856
- to stream Ncbi, to step Checkpoint: 000856
- to stream Main, to step Merge: 007518
- to stream Main, to step Curation: 006F91
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Characterization of novel <italic>SLC6A8</italic>
variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database</title>
<author><name sortKey="Betsalel, Ofir T" sort="Betsalel, Ofir T" uniqKey="Betsalel O" first="Ofir T" last="Betsalel">Ofir T. Betsalel</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rosenberg, Efraim H" sort="Rosenberg, Efraim H" uniqKey="Rosenberg E" first="Efraim H" last="Rosenberg">Efraim H. Rosenberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pathology, The Netherlands Cancer Institute</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Almeida, Ligia S" sort="Almeida, Ligia S" uniqKey="Almeida L" first="Ligia S" last="Almeida">Ligia S. Almeida</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Center, National Institute of Health, INSA</institution>
, Porto,<country>Portugal</country>
</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Center</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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"><nlm:aff id="aff5"><institution>Greenwood Genetics Center</institution>
, Greenwood, SC,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Metabolic Disorders, Necker-Enfants Malades Hospital</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Abdul Rahman, Omar" sort="Abdul Rahman, Omar" uniqKey="Abdul Rahman O" first="Omar" last="Abdul-Rahman">Omar Abdul-Rahman</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Pediatrics, University of Mississippi Medical Center</institution>
, Jackson, MS,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>South Australian Clinical Genetics Service, Women's and Children's Hospital</institution>
, North Adelaide, South Australia,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vilarinho, Laura" sort="Vilarinho, Laura" uniqKey="Vilarinho L" first="Laura" last="Vilarinho">Laura Vilarinho</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Center, National Institute of Health, INSA</institution>
, Porto,<country>Portugal</country>
</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wolf, Philipp" sort="Wolf, Philipp" uniqKey="Wolf P" first="Philipp" last="Wolf">Philipp Wolf</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Neuropediatrics, DRK Children Clinic Siegen</institution>
, Siegen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T" last="Den Dunnen">Johan T. Den Dunnen</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Department of Human and Clinical Genetics, Leiden University Medical Center</institution>
, Leiden,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jakobs, Cornelis" sort="Jakobs, Cornelis" uniqKey="Jakobs C" first="Cornelis" last="Jakobs">Cornelis Jakobs</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Salomons, Gajja S" sort="Salomons, Gajja S" uniqKey="Salomons G" first="Gajja S" last="Salomons">Gajja S. Salomons</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">20717164</idno>
<idno type="pmc">3039501</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039501</idno>
<idno type="RBID">PMC:3039501</idno>
<idno type="doi">10.1038/ejhg.2010.134</idno>
<date when="2010">2010</date>
<idno type="wicri:Area/Pmc/Corpus">000056</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000056</idno>
<idno type="wicri:Area/Pmc/Curation">000056</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000056</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002631</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002631</idno>
<idno type="wicri:Area/Ncbi/Merge">000856</idno>
<idno type="wicri:Area/Ncbi/Curation">000856</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000856</idno>
<idno type="wicri:doubleKey">1018-4813:2010:Betsalel O:characterization:of:novel</idno>
<idno type="wicri:Area/Main/Merge">007518</idno>
<idno type="wicri:Area/Main/Curation">006F91</idno>
<idno type="wicri:Area/Main/Exploration">006F91</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Characterization of novel <italic>SLC6A8</italic>
variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database</title>
<author><name sortKey="Betsalel, Ofir T" sort="Betsalel, Ofir T" uniqKey="Betsalel O" first="Ofir T" last="Betsalel">Ofir T. Betsalel</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rosenberg, Efraim H" sort="Rosenberg, Efraim H" uniqKey="Rosenberg E" first="Efraim H" last="Rosenberg">Efraim H. Rosenberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pathology, The Netherlands Cancer Institute</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Almeida, Ligia S" sort="Almeida, Ligia S" uniqKey="Almeida L" first="Ligia S" last="Almeida">Ligia S. Almeida</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Center, National Institute of Health, INSA</institution>
, Porto,<country>Portugal</country>
</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Human Genetics, Radboud University Nijmegen Medical Center</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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"><nlm:aff id="aff5"><institution>Greenwood Genetics Center</institution>
, Greenwood, SC,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Metabolic Disorders, Necker-Enfants Malades Hospital</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Abdul Rahman, Omar" sort="Abdul Rahman, Omar" uniqKey="Abdul Rahman O" first="Omar" last="Abdul-Rahman">Omar Abdul-Rahman</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Pediatrics, University of Mississippi Medical Center</institution>
, Jackson, MS,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>South Australian Clinical Genetics Service, Women's and Children's Hospital</institution>
, North Adelaide, South Australia,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vilarinho, Laura" sort="Vilarinho, Laura" uniqKey="Vilarinho L" first="Laura" last="Vilarinho">Laura Vilarinho</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Center, National Institute of Health, INSA</institution>
, Porto,<country>Portugal</country>
</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wolf, Philipp" sort="Wolf, Philipp" uniqKey="Wolf P" first="Philipp" last="Wolf">Philipp Wolf</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Neuropediatrics, DRK Children Clinic Siegen</institution>
, Siegen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T" last="Den Dunnen">Johan T. Den Dunnen</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Department of Human and Clinical Genetics, Leiden University Medical Center</institution>
, Leiden,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jakobs, Cornelis" sort="Jakobs, Cornelis" uniqKey="Jakobs C" first="Cornelis" last="Jakobs">Cornelis Jakobs</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Salomons, Gajja S" sort="Salomons, Gajja S" uniqKey="Salomons G" first="Gajja S" last="Salomons">Gajja S. Salomons</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>The X-linked creatine transporter defect is caused by mutations in the <italic>SLC6A8</italic>
gene. Until now, 66 synonymous and intronic variants in <italic>SLC6A8</italic>
were detected in our laboratory. To gain more insight in the effect of the detected variants, we applied five free web-based splice-site analysis tools to 25 published variants that were stratified as (non-)disease causing. All were correctly predicted to have no effect (<italic>n</italic>
=18) or to cause erroneous splicing (<italic>n</italic>
=7), with the exception of a pathogenic <italic>de novo</italic>
24 bp intronic deletion. Second, 41 unclassified variants, including 28 novel, were subjected to analysis by these tools. At least four splice-site analysis tools predicted that three of the variants would affect splicing as the mutations disrupted the canonical splice site. Urinary creatine/creatinine and brain MRS confirmed creatine transporter deficiency in five patients (four families), including one female. Another variant was predicted to moderately affect splicing by all five tools. However, transient transfection of a minigene containing the variant in a partial <italic>SLC6A8</italic>
segment showed no splicing errors, and thus was finally classified as non-disease causing. This study shows that splice tools are useful for the characterization of the majority of variants, but also illustrates that the actual effect can be misclassified in rare occasions. Therefore, further laboratory studies should be considered before final conclusions on the disease-causing nature are drawn. To provide an accessible database, the 109 currently known <italic>SLC6A8</italic>
variants, including 35 novel ones, are included in a newly developed LOVD DNA variation database.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Pays-Bas</li>
<li>Portugal</li>
<li>États-Unis</li>
</country>
</list>
<tree><country name="Pays-Bas"><noRegion><name sortKey="Betsalel, Ofir T" sort="Betsalel, Ofir T" uniqKey="Betsalel O" first="Ofir T" last="Betsalel">Ofir T. Betsalel</name>
</noRegion>
<name sortKey="Almeida, Ligia S" sort="Almeida, Ligia S" uniqKey="Almeida L" first="Ligia S" last="Almeida">Ligia S. Almeida</name>
<name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T" last="Den Dunnen">Johan T. Den Dunnen</name>
<name sortKey="Jakobs, Cornelis" sort="Jakobs, Cornelis" uniqKey="Jakobs C" first="Cornelis" last="Jakobs">Cornelis Jakobs</name>
<name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<name sortKey="Rosenberg, Efraim H" sort="Rosenberg, Efraim H" uniqKey="Rosenberg E" first="Efraim H" last="Rosenberg">Efraim H. Rosenberg</name>
<name sortKey="Rosenberg, Efraim H" sort="Rosenberg, Efraim H" uniqKey="Rosenberg E" first="Efraim H" last="Rosenberg">Efraim H. Rosenberg</name>
<name sortKey="Salomons, Gajja S" sort="Salomons, Gajja S" uniqKey="Salomons G" first="Gajja S" last="Salomons">Gajja S. Salomons</name>
</country>
<country name="Portugal"><noRegion><name sortKey="Almeida, Ligia S" sort="Almeida, Ligia S" uniqKey="Almeida L" first="Ligia S" last="Almeida">Ligia S. Almeida</name>
</noRegion>
<name sortKey="Vilarinho, Laura" sort="Vilarinho, Laura" uniqKey="Vilarinho L" first="Laura" last="Vilarinho">Laura Vilarinho</name>
</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="Abdul Rahman, Omar" sort="Abdul Rahman, Omar" uniqKey="Abdul Rahman O" first="Omar" last="Abdul-Rahman">Omar Abdul-Rahman</name>
</country>
<country name="France"><noRegion><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name>
</noRegion>
</country>
<country name="Allemagne"><noRegion><name sortKey="Wolf, Philipp" sort="Wolf, Philipp" uniqKey="Wolf P" first="Philipp" last="Wolf">Philipp Wolf</name>
</noRegion>
</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 006F91 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006F91 | 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= PMC:3039501 |texte= Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:20717164" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a AustralieFrV1
This area was generated with Dilib version V0.6.33. |