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Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a group of inherited blinding eye diseases characterized by defects in the development of the retinal vessels. Recent studies have identified genetic variants in tetraspanin 12 (TSPAN12) as a cause of FEVR. The purpose of this study was to iden...

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Détails bibliographiques
Auteurs principaux: Xu, Yu, Huang, Lulin, Li, Jing, Zhang, Qi, Fei, Ping, Zhu, Xiong, Tai, Zhengfu, Ma, Shi, Gong, Bo, Li, Yun, Zang, Weizhou, Zhu, Xianjun, Zhao, Peiquan, Yang, Zhenglin
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169774/
https://ncbi.nlm.nih.gov/pubmed/25352738
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