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Article

A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.

Molecular vision - 14 Sept 2004

Li Yang, Wang Jun, Dong Bing, Man Hong

Abstract excerpt

PURPOSE: To report the identification of a novel mutation of connexin46 in a large Chinese family with autosomal dominant congenital nuclear pulverulent cataract. METHODS: Genetic linkage analysis was performed on the known genetic loci for autosomal dominant congenital nuclear pulverulent cataract with a panel of polymorphic markers and mutations were screened by direct sequencing. RESULTS: Significant two point...

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Source

Identifiers

PMID: 15448617

Genes

GJA3

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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