Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa-Reference-Cited by-同舟云学术

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

Published:2010-05 Issue:5 Volume:86 Page:783-788
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Collin Rob W.J.,Safieh Christine,Littink Karin W.,Shalev Stavit A.,Garzozi Hanna J.,Rizel Leah,Abbasi Anan H.,Cremers Frans P.M.,den Hollander Anneke I.,Klevering B. Jeroen,Ben-Yosef Tamar

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference8 articles.

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2. Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1;Goldberg;Proc. Natl. Acad. Sci. USA,1996

3. A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family;Abbasi;Mol. Vis.,2008

4. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews;Auslender;Invest. Ophthalmol. Vis. Sci.,2007

5. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa;Collin;Am. J. Hum. Genet.,2008

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