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Article

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Investigative ophthalmology & visual science - 1 Jun 2015

Wang Hui, Wang Xia, Zou Xuan, Xu Shan, Li Hui, Soens Zachry Tore, Wang Keqing, Li Yumei, Dong Fangtian, Chen Rui, Sui Ruifang

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in the Chinese population, we performed a mutation screen in 145 Chinese LCA families. METHODS: First, we performed direct Sanger sequencing of 7 LCA disease genes in 81 LCA families. Next, we developed a capture panel that enriches the entire coding exons...

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Identifiers

PMID: 26047050
DOI: 10.1167/iovs.14-15972
PMCID: PMC4466882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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