Article
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
Molecular vision - 4 Mar 2008
Yan Ming, Xiong Chenling, Ye Shui Qing, Chen Yongmei, Ke Min, Zheng Fang, Zhou Xin
Abstract excerpt
PURPOSE: To identify the genetic cause responsible for the autosomal dominant hereditary cataract in a Chinese family. METHODS: A whole family of a proband who has a dominant congenital pulverulent nuclear cataract was recruited into Zhongnan Hospital. The lenses of patients were observed by a slit-lamp microscope, and the lenses of the proband's mother were analyzed by scanning electron microscopy. Mutation...
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