Article
Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
International journal of molecular medicine - 1 Apr 2014
Li Shiqiang, Shen Tao, Xiao Xueshan, Guo Xiangming, Zhang Qingjiong
Abstract excerpt
Mutations in the crumbs homolog (CRB)1 gene are among the common causes of severe early onset retinal dystrophy. Some characteristic clinical phenotypes are frequently associated with mutations in CRB1. The aim of this study was to examine whether characteristic phenotype-directed mutational screening facilitated the detection of CRB1 mutations. The study included 22 probands with at least one of the potential...
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