Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies

PURPOSE: To identify disease-causing mutations in Chinese families who presented with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). METHODS: The pathogenic variant in a Chinese family with autosomal dominant RP was investigated with a specific hereditary eye disease enrichment pane...

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Detalles Bibliográficos
Autores principales: Yang, Liping, Wu, Lemeng, Yin, Xiaobei, Chen, Ningning, Li, Genlin, Ma, Zhizhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976687/
https://www.ncbi.nlm.nih.gov/pubmed/24715753

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