Article
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.
Investigative ophthalmology & visual science - 1 Aug 2006
Liu Mugen, Ke Tie, Wang Zhaoxiang, Yang Qinbo, Chang Wei, Jiang Fagang, Tang Zhaohui, Li Hui, Ren Xiang, Wang Xu, Wang Tao, Li Qingchun, Yang Junguo, Liu Jingyu, Wang Qing Kenneth
Abstract excerpt
PURPOSE: A four-generation Chinese family with 13 members affected with autosomal dominant congenital posterior polar cataract was studied. The purpose of this study was to identify the disease-causing gene in the family and to validate that mutations in CRYAB, the alphaB-crystallin gene, cause the congenital cataract. METHODS: Linkage analysis was performed with a panel of microsatellite markers flanking...
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