Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
Identifieur interne : 005467 ( Main/Merge ); précédent : 005466; suivant : 005468Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
Auteurs : Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Alexandros Onoufriadis [Royaume-Uni] ; Anne H. Child [Royaume-Uni] ; Jae Hwang [Royaume-Uni] ; Kamini Kalidas [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Richard Trembath [Royaume-Uni] ; Steve Jeffery [Royaume-Uni]Source :
- Journal of medical genetics [ 0022-2593 ] ; 2011.
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Abstract
Background Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital. Methods Linkage analysis was used to determine a locus, and exome sequencing was employed to look for causative variants. Results Linkage analysis revealed cosegregation of a 16.1 Mb haplotype on chromosome 1 q42 that contained 173 known or predicted genes. Whole exome sequencing in a single affected individual was undertaken, and the search for the causative variant was focused to within the linkage interval. This approach revealed two novel non-synonymous single nucleotide substitutions within the chromosome 1 locus, in NVL and GJC2. NVL and GJC2 were sequenced in an additional cohort of individuals with a similar phenotype and non- synonymous variants were found in GJC2 in four additional families. Conclusion This report demonstrates the power of exome sequencing efficiently applied to a traditional positional cloning pipeline in disease gene discovery, and suggests that the phenotype produced by GJC2 mutations is predominantly one of 4 limb lymphoedema.
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Simpson</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Southwest Thames Regional Genetics Service, St. George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Southwest Thames Regional Genetics Service, St. George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Clinical Genetics Department, Guy's Hospital, NHS Foundation Trust</s1><s2>London</s2><s3>GBR</s3><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name><affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Cardiac and Vascular Sciences, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Hwang, Jae" sort="Hwang, Jae" uniqKey="Hwang J" first="Jae" last="Hwang">Jae Hwang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Department of Cardiac and Vascular Sciences (Dermatology), St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Trembath, Richard" sort="Trembath, Richard" uniqKey="Trembath R" first="Richard" last="Trembath">Richard Trembath</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0250233</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0250233 INIST</idno><idno type="RBID">Pascal:11-0250233</idno><idno type="wicri:Area/PascalFrancis/Corpus">000175</idno><idno type="wicri:Area/PascalFrancis/Curation">000783</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000145</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000145</idno><idno type="wicri:doubleKey">0022-2593:2011:Ostergaard P:rapid:identification:of</idno><idno type="wicri:Area/Main/Merge">005467</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype</title><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Southwest Thames Regional Genetics Service, St. George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Southwest Thames Regional Genetics Service, St. George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Clinical Genetics Department, Guy's Hospital, NHS Foundation Trust</s1><s2>London</s2><s3>GBR</s3><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name><affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Cardiac and Vascular Sciences, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Hwang, Jae" sort="Hwang, Jae" uniqKey="Hwang J" first="Jae" last="Hwang">Jae Hwang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Department of Cardiac and Vascular Sciences (Dermatology), St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Trembath, Richard" sort="Trembath, Richard" uniqKey="Trembath R" first="Richard" last="Trembath">Richard Trembath</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics, St George's, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></analytic><series><title level="j" type="main">Journal of medical genetics</title><title level="j" type="abbreviated">J. med. genet.</title><idno type="ISSN">0022-2593</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Journal of medical genetics</title><title level="j" type="abbreviated">J. med. genet.</title><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic determinism</term><term>Genetic linkage</term><term>Genetic mapping</term><term>Genetics</term><term>Human</term><term>Identification</term><term>Lymphedema</term><term>Mutation</term><term>Nucleotide sequence</term><term>Pathogenesis</term><term>Phenotype</term><term>Sequencing</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Lymphoedème</term><term>Identification</term><term>Mutation</term><term>Séquençage</term><term>Séquence nucléotide</term><term>Liaison génétique</term><term>Pathogénie</term><term>Déterminisme génétique</term><term>Carte génétique</term><term>Phénotype</term><term>Génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital. Methods Linkage analysis was used to determine a locus, and exome sequencing was employed to look for causative variants. Results Linkage analysis revealed cosegregation of a 16.1 Mb haplotype on chromosome 1 q42 that contained 173 known or predicted genes. Whole exome sequencing in a single affected individual was undertaken, and the search for the causative variant was focused to within the linkage interval. This approach revealed two novel non-synonymous single nucleotide substitutions within the chromosome 1 locus, in NVL and GJC2. NVL and GJC2 were sequenced in an additional cohort of individuals with a similar phenotype and non- synonymous variants were found in GJC2 in four additional families. Conclusion This report demonstrates the power of exome sequencing efficiently applied to a traditional positional cloning pipeline in disease gene discovery, and suggests that the phenotype produced by GJC2 mutations is predominantly one of 4 limb lymphoedema.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name></region><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name><name sortKey="Hwang, Jae" sort="Hwang, Jae" uniqKey="Hwang J" first="Jae" last="Hwang">Jae Hwang</name><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><name sortKey="Kalidas, Kamini" sort="Kalidas, Kamini" uniqKey="Kalidas K" first="Kamini" last="Kalidas">Kamini Kalidas</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><name sortKey="Trembath, Richard" sort="Trembath, Richard" uniqKey="Trembath R" first="Richard" last="Trembath">Richard Trembath</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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