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Article

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PloS one - 1 Jan 2011

Li Lin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Guo Xiangming, Jiao Xiaodong, Zhang Qingjiong, Hejtmancik J Fielding

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far, full spectrum of variations in the 15 genes known to cause LCA has not been systemically evaluated in East Asians. Therefore, we performed comprehensive detection of variants in these 15 genes in 87 unrelated Han Chinese patients with LCA. METHODOLOGY/PRINCIPAL FINDINGS: The 51 most...

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Source

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Identifiers

PMID: 21602930
DOI: 10.1371/journal.pone.0019458
PMCID: PMC3094346

Genes

AIPL1
CRB1
CRX
LCA5
MERTK
RDH12
RPE65
RPGRIP1
SPATA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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