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Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes

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: Sange...

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Detalles Bibliográficos
Autores principales: Yang, Huiqin, Xiao, Xueshan, Li, Shiqiang, Mai, Guiying, Zhang, Qingjiong
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087453/
https://www.ncbi.nlm.nih.gov/pubmed/21552475