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Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

✍ Scribed by Jia, Xueyuan; Zhang, Feng; Bai, Jing; Gao, Linghan; Zhang, Xuelong; Sun, Haiming; Sun, Donglin; Guan, Rongwei; Sun, Wenjing; Xu, Lidan; Yue, Zhichao; Yu, Yang; Fu, Songbin


Book ID
121616394
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
280 KB
Volume
14
Category
Article
ISSN
1471-2350

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The phenotype in the rd mouse is similar to the clinical presentation of Leber congenital amaurosis (LCA) in humans. Recently a nonsense mutation in the beta subunit of the cGMP phosphodiesterase (Pdeb) gene has been defined as the cause for the rd phenotype in the mouse and has raised the question