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Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients

PURPOSE: Retinal pigment epithelium-specific protein 65 kDa (RPE65) plays an essential role in vitamin A metabolism necessary for synthesizing the visual pigment 11-cis-retinal chromophore. Mutations in RPE65 cause the childhood blindness disorder known as Leber congenital amaurosis (LCA), as well a...

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Detalles Bibliográficos
Autores principales:	Xu, Fei, Dong, Qiang, Liu, Liang, Li, Hui, Liang, Xiaofang, Jiang, Ruxin, Sui, Ruifang, Dong, Fangtian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324356/ https://www.ncbi.nlm.nih.gov/pubmed/22509104

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