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Article

Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

JAMA ophthalmology - 1 Sept 2014

Li Shiqiang, Huang Li, Xiao Xueshan, Jia Xiaoyun, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

IMPORTANCE: Mutations in CNGA3 are the most common cause of achromatopsia and cone-rod dystrophies. OBJECTIVE: To identify CNGA3 mutations in patients with cone dystrophies or Leber congenital amaurosis. DESIGN, SETTING, AND PARTICIPANTS: Clinical data and genomic DNA in 267 Chinese probands from 138 families with cone dystrophies and 129 families with Leber congenital amaurosis collected at the Zhongshan...

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Source

Identifiers

PMID: 24903488
DOI: 10.1001/jamaophthalmol.2014.1032

Genes

CNGA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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