Article
A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.
G3 (Bethesda, Md.) - 17 Mar 2014
Lv Huibin, Huang Chen, Zhang Jing, Liu Ziyuan, Zhang Zhike, Xu Haining, You Yuchen, Hu Jinping, Li Xuemin, Wang Wei
Abstract excerpt
Congenital cataracts are a significant cause of visual impairment or blindness in children. One-third of cases estimated to have a genetic cause. We carried out gene analysis and bioinformatics analysis to map the locus and to identify the underlying genetic defect in a 12-member, four-generation Chinese family affected with bilateral congenital cataracts. We screened individuals of the family and discovered a...
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