Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II

PURPOSE: Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe hearing loss, postpuberal onset of retinitis pigmentosa (RP), and normal vestibular function. Mutations in the USH2A gene have been shown to be respon...

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Detalles Bibliográficos
Autores principales: Dai, Hanjun, Zhang, Xiaohui, Zhao, Xin, Deng, Ting, Dong, Bing, Wang, Jingzhao, Li, Yang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584772/
https://www.ncbi.nlm.nih.gov/pubmed/19023448

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