Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy

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...

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Publicat a:Sci Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4632081/
https://ncbi.nlm.nih.gov/pubmed/26530129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep16120
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