Article
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
Molecular vision - 1 Jan 2015
Xu Yan, Guan Liping, Xiao Xueshan, Zhang Jianguo, Li Shiqiang, Jiang Hui, Jia Xiaoyun, Yang Jianhua, Guo Xiangming, Yin Ye, Wang Jun, Zhang Qingjiong
Abstract excerpt
PURPOSE: Mutations in 60 known genes were previously identified by exome sequencing in 79 of 157 families with retinitis pigmentosa (RP). This study analyzed variants in 129 genes associated with other forms of hereditary retinal dystrophy in the same cohort. METHODS: Apart from the 73 genes previously analyzed, a further 129 genes responsible for other forms of hereditary retinal dystrophy were selected based on...
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