Article
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.
Scientific reports - 4 Nov 2015
Fei Ping, Zhu Xiong, Jiang Zhilin, Ma Shi, Li Jing, Zhang Qi, Zhou Yu, Xu Yu, Tai Zhengfu, Zhang Lin, Huang Lulin, Yang Zhenglin, Zhao Peiquan, Zhu Xianjun
Abstract excerpt
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease characterized by defects in the development of retinal vessels. However, known genetic mutations can only explain approximately 50% of FEVR patients. To assess the mutation frequency of Frizzled 4 (FZD4) in Chinese patients, we analysed patients with FEVR from 61 families from China to identify mutations in FZD4 and to study the effects of...
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