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Article

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

Molecular vision - 11 Sept 2007

Guleria Kamlesh, Sperling Karl, Singh Daljit, Varon Raymonda, Singh Jai Rup, Vanita Vanita

Abstract excerpt

PURPOSE: To identify the genetic defect in an autosomal dominant congenital cataract family (ADCC), having 18 individuals in four generations affected with embryonal cataract. METHODS: A genome wide scan using the GeneChip Human Mapping 10K Array, version 2 was performed on DNA samples from eight affected and two unaffected members of an ADCC family having 18 members in four generations affected with embryonal...

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Identifiers

PMID: 17893674

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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