Article
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
Investigative ophthalmology & visual science - 26 Jun 2013
Chen Yabin, Zhang Qingyan, Shen Tao, Xiao Xueshan, Li Shiqiang, Guan Liping, Zhang Jianguo, Zhu Zhihong, Yin Ye, Wang Panfeng, Guo Xiangming, Wang Jun, Zhang Qingjiong
Abstract excerpt
PURPOSE: Leber congenital amaurosis (LCA) is a genetically heterogeneous disease with, to date, 19 identified causative genes. Our aim was to evaluate the mutations in all 19 genes in Chinese families with LCA. METHODS: LCA patients from 41 unrelated Chinese families were enrolled, including 25 previously unanalyzed families and 16 families screened previously by Sanger sequencing, but with no identified...
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