Article
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.
Molecular vision - 29 Apr 2011
Yang Huiqin, Xiao Xueshan, Li Shiqiang, Mai Guiying, Zhang Qingjiong
Abstract excerpt
PURPOSE: Mutations in tetraspanin 12 (TSPAN12) have recently been identified as a cause of autosomal dominant familial exudative vitreoretinopathy (FEVR). The purpose of this study was to detect TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes. METHODS: Sanger sequencing was used to analyze the seven coding exons and their adjacent regions of TSPAN12 in 49 unrelated FEVR...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.