Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis

PURPOSE: X-linked retinoschisis is a retinal dystrophy caused by mutations in the RS1 gene in Xp22.1. These mutations lead to schisis (splitting) of the neural retina and subsequent reduction in visual acuity in affected men (OMIM # 312700). The aim of this study was to identify the RS1 gene mutatio...

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Detalles Bibliográficos
Autores principales: Chen, Jieqiong, Xu, Ke, Zhang, Xiaohui, Pan, Zhe, Dong, Bing, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913487/
https://www.ncbi.nlm.nih.gov/pubmed/24505212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913487/
https://www.ncbi.nlm.nih.gov/pubmed/24505212

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