Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis-Reference-Cited by-同舟云学术

Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis

Published:2011-09-23 Issue:12 Volume:32 Page:1450-1459
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wang Xia,Wang Hui,Cao Ming,Li Zhe,Chen Xianfeng,Patenia Claire,Gore Athurva,Abboud Emad B.,Al-Rajhi Ali A.,A. Lewis Richard,Lupski James R.,Mardon Graeme,Zhang Kun,Muzny Donna,Gibbs Richard A.,Chen Rui

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference65 articles.

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3. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy;Bond;J Med Genet,2005

4. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis;Bowne;Invest Ophthalmol Vis Sci,2006

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