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Article

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

Molecular vision - 1 Jan 2012

Zhang Xiaohui, Wang Lina, Wang Jun, Dong Bing, Li Yang

Abstract excerpt

PURPOSE: To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). METHODS: One family was examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genetic linkage analysis was performed on the known genetic loci for ADCC with a panel of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22312188
PMCID: PMC3272055

Genes

GJA3
GJA8

Variants

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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