Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto, Edgar A; Hurd, Toby W; Airik, Rannar; Chaki, Moumita; Zhou, Weibin; Stoetzel, Corinne; Patil, Suresh B; Levy, Shawn; Ghosh, Amiya K; Murga-Zamalloa, Carlos A; van Reeuwijk, Jeroen; Letteboer, Stef J F; Sang, Liyun; Giles, Rachel H; Liu, Qin; Coene, Karlien L M; Estrada-Cuzcano, Alejandro; Collin, Rob W J; McLaughlin, Heather M; Held, Susanne; Kasanuki, Jennifer M; Ramaswami, Gokul; Conte, Jinny; Lopez, Irma; Washburn, Joseph; Macdonald, James; Hu, Jinghua; Yamashita, Yukiko; Maher, Eamonn R; Guay-Woodford, Lisa M; Neumann, Hartmut P H; Obermüller, Nicholas; Koenekoop, Robert K; Bergmann, Carsten; Bei, Xiaoshu; Lewis, Richard A; Katsanis, Nicholas; Lopes, Vanda; Williams, David S; Lyons, Robert H; Dang, Chi V; Brito, Daniela A; Dias, Mónica Bettencourt; Zhang, Xinmin; Cavalcoli, James D; Nürnberg, Gudrun; Nürnberg, Peter; Pierce, Eric A; Jackson, Peter K; Antignac, Corinne

Otto, Edgar A; Hurd, Toby W; Airik, Rannar; Chaki, Moumita; Zhou, Weibin; Stoetzel, Corinne; Patil, Suresh B; Levy, Shawn; Ghosh, Amiya K; Murga-Zamalloa, Carlos A; van Reeuwijk, Jeroen; Letteboer, Stef J F; Sang, Liyun; Giles, Rachel H; Liu, Qin; Coene, Karlien L M; Estrada-Cuzcano, Alejandro; Collin, Rob W J; McLaughlin, Heather M; Held, Susanne; Kasanuki, Jennifer M; Ramaswami, Gokul; Conte, Jinny; Lopez, Irma; Washburn, Joseph; Macdonald, James; Hu, Jinghua; Yamashita, Yukiko; Maher, Eamonn R; Guay-Woodford, Lisa M; Neumann, Hartmut P H; Obermüller, Nicholas; Koenekoop, Robert K; Bergmann, Carsten; Bei, Xiaoshu; Lewis, Richard A; Katsanis, Nicholas; Lopes, Vanda; Williams, David S; Lyons, Robert H; Dang, Chi V; Brito, Daniela A; Dias, Mónica Bettencourt; Zhang, Xinmin; Cavalcoli, James D; Nürnberg, Gudrun; Nürnberg, Peter; Pierce, Eric A; Jackson, Peter K; Antignac, Corinne.

Affiliation

Otto EA; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA.

Nat Genet ; 42(10): 840-50, 2010 Oct.

Article de En | MEDLINE | ID: mdl-20835237

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Rétinopathies / Autoantigènes / Exons / Études d'associations génétiques / Maladies du rein / Mutation / Protéines tumorales Type d'étude: Observational_studies / Risk_factors_studies Limites: Animals / Humans Langue: En Journal: Nat Genet Sujet du journal: GENETICA MEDICA Année: 2010 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique

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