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Article

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.

Molecular vision - 1 Jan 2012

Xu Fei, Dong Qiang, Liu Liang, Li Hui, Liang Xiaofang, Jiang Ruxin, Sui Ruifang, Dong Fangtian

Abstract excerpt

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 as autosomal recessive retinitis pigmentosa (RP). The purpose of this study was to identify RPE65 mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22509104
PMCID: PMC3324356

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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