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Article

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

PloS one - 1 Jan 2016

Jiao Xiaodong, Kabir Firoz, Irum Bushra, Khan Arif O, Wang Qiwei, Li David, Khan Asma A, Husnain Tayyab, Akram Javed, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Amer

Abstract excerpt

PURPOSE: This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families. METHODS: Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white...

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Share to Cataract
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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: 27326458
DOI: 10.1371/journal.pone.0157005
PMCID: PMC4915718

Genes

CRYBB3
CHM
CRYBA4
CRYBB1
CRYBB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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