Article
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
Investigative ophthalmology & visual science - 1 Mar 2013
Chen Xuejuan, Zhao Kanxing, Sheng Xunlun, Li Yang, Gao Xiang, Zhang Xiumei, Kang Xiaoli, Pan Xinyuan, Liu Yuan, Jiang Chao, Shi Houxia, Chen Xue, Rong Weining, Chen Li Jia, Lai Tim Yuk Yau, Liu Yani, Wang Xiuying, Yuan Songtao, Liu Qinghuai, Vollrath Douglas, Pang Chi Pui, Zhao Chen
Abstract excerpt
PURPOSE: Hereditary retinal dystrophies (HRDs) are a group of monogenic diseases characterized by an irreversible loss of photoreceptors. HRDs exhibit significant genetic and clinical heterogeneities challenging traditional techniques for determining disease-causal mutations. This study aims to develop an efficient molecular diagnostic platform for HRDs, and to determine the genetic basis for 25 randomly...
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