Article
Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.
PloS one - 1 Jan 2013
Su Dongmei, Yang Zhenfei, Li Qian, Guan Lina, Zhang Huiling, E Dandan, Zhang Lei, Zhu Siquan, Ma Xu
Abstract excerpt
Congenital cataract is a clinically and genetically heterogeneous group of eye disorders that causes visual impairment and childhood blindness. The purpose of this study was to identify the genetic defect associated with autosomal dominant congenital perinuclear cataract in a Chinese family. A detailed family history and clinical data of the family were recorded, and candidate gene sequencing was performed to...
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