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