Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II

PURPOSE: To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). METHODS: One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher s...

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Detalles Bibliográficos
Autores principales: Xu, Wenjun, Dai, Hanjun, Lu, Tingting, Zhang, Xiaohui, Dong, Bing, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115748/
https://www.ncbi.nlm.nih.gov/pubmed/21686329

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