Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy-Reference-Cited by-同舟云学术

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

Published:2010-09-12 Issue:10 Volume:42 Page:840-850
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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,Saunier Sophie,Roepman Ronald,Dollfus Helene,Khanna Hemant,Hildebrandt Friedhelm

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.662.pdf

Reference42 articles.

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3. Olbrich, H. et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat. Genet. 34, 455–459 (2003).

4. Otto, E. et al. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am. J. Hum. Genet. 71, 1167–1171 (2002).

5. Mollet, G. et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat. Genet. 32, 300–305 (2002).

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