Article
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Scientific reports - 20 Jan 2016
Di Yanan, Huang Lulin, Sundaresan Periasamy, Li Shujin, Kim Ramasamy, Ballav Saikia Bibhuti, Qu Chao, Zhu Xiong, Zhou Yu, Jiang Zhilin, Zhang Lin, Lin Ying, Zhang Dingding, Li Yuanfen, Zhang Houbin, Yin Yibing, Lu Fang, Zhu Xianjun, Yang Zhenglin
Abstract excerpt
Retinitis pigmentosa (RP) is a rare heterogeneous genetic retinal dystrophy disease, and despite years of research, known genetic mutations can explain only approximately 60% of RP cases. We sought to identify the underlying genetic mutations in a cohort of fourteen Indian autosomal recessive retinitis pigmentosa (arRP) families and 100 Indian sporadic RP cases. Whole-exome sequencing (WES) was performed on the...
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