Article
Exome capture sequencing identifies a novel mutation in BBS4.
Molecular vision - 1 Jan 2011
Wang Hui, Chen Xianfeng, Dudinsky Lynn, Patenia Claire, Chen Yiyun, Li Yumei, Wei Yue, Abboud Emad B, Al-Rajhi Ali A, Lewis Richard Alan, Lupski James R, Mardon Graeme, Gibbs Richard A, Perkins Brian D, Chen Rui
Abstract excerpt
PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe eye dystrophies characterized by severe vision loss at an early stage and accounts for approximately 5% of all retinal dystrophies. The purpose of this study was to identify a novel LCA disease allele or gene and to develop an approach combining genetic mapping with whole exome sequencing. METHODS: Three patients from King Khaled Eye Specialist...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.