Article
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
The British journal of ophthalmology - 1 Feb 2016
Hu Huan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Guo Xiangming, Zhang Qingjiong
Abstract excerpt
BACKGROUND/AIMS: To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes. METHODS: Mutation analysis in a cohort of patients in a single institute was conducted. Bioinformatics was performed for whole exome sequencing, and the variants were confirmed by Sanger sequencing. Clinical data and DNA samples were collected from 814 unrelated...
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