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Article

Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.

Molecular vision - 11 Oct 2005

Devi Ramachandran Ramya, Reena Chandrashekar, Vijayalakshmi Perumalsamy

Abstract excerpt

PURPOSE: Connexin 46 (Cx46) is crucial in the maintenance of lens homeostasis and it is known to be expressed mainly in the terminally differentiated lens fiber cells. The present study aimed to identify the spectrum of mutations in Connexin 46 in the Indian population. METHODS: PCR based Single Stranded Conformational Polymorphism (SSCP) analysis was used to screen sixty probands with nonsyndromic congenital...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16254549

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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