Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy

PURPOSE: To investigate the clinical features and disease-causing mutations in two Chinese families with familial exudative vitreoretinopathy (FEVR). METHODS: Clinical data and genomic DNA were collected for patients with FEVR. The coding exons and adjacent intronic regions of FZD4, LRP5, TSPAN12, a...

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Hlavní autoři: Fei, Ping, Zhang, Qi, Huang, Luling, Xu, Yu, Zhu, Xiong, Tai, Zhengfu, Gong, Bo, Ma, Shi, Yao, Quanyao, Li, Jing, Zhao, Peiquan, Yang, Zhenglin
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976684/
https://ncbi.nlm.nih.gov/pubmed/24715757
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