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Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.

Experimental eye research - 1 Aug 2016

Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Xin Wei, Wang Panfeng, Sun Wenmin, Huang Li, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. We have previously performed a mutational analysis of the known LCA-associated genes in probands with LCA by both Sanger and whole exome sequencing. In this study, whole exome sequencing was carried out on 66 new probabds with LCA. In conjunction with these data, the present study provides a comprehensive analysis of the...

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PMID: 27375279
DOI: 10.1016/j.exer.2016.06.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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