Article
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.
BMC ophthalmology - 8 Sept 2014
Xia Xin-Yi, Wu Qiu-Yue, An Li-Mei, Li Wei-Wei, Li Na, Li Tian-Fu, Zhang Cui, Cui Ying-Xia, Li Xiao-Jun, Xue Chun-Yan
Abstract excerpt
BACKGROUND: To identify the genetic defects and investigate the possible mechanism of cataract genesis in a five-generation family with autosomal dominant congenital posterior polar cataracts. METHODS: Clinical data were collected, and the lens phenotypes of the affected members in this family were recorded by slit lamp photography. Genomic DNA was isolated from peripheral blood using QIAamp DNA Blood Mini Kits....
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