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[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Aug 2009

Yan Ming, Zhou Xin, Chen Yong-mei, Ma Jun-jie, Xiong Chen-ling, Cheng Xiao-huan

Abstract excerpt

OBJECTIVE: The aim of this study was to reveal the genetic defect of the autosomal dominant inheritance cataract in a Chinese pedigree. METHODS: Case-control study. There were 26 individuals investigated with clinical examination in a Chinese four generations pedigree. The genome DNA of the individuals was extracted by the improved NaI method. The exons of six cataract candidate genes in 204 normal controls and...

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Identifiers

PMID: 20021880

Genes

GJA8

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