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Article

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.

Ophthalmology - 1 Mar 2007

Bateman J Bronwyn, von-Bischhoffshaunsen Fernando R Barria, Richter Leslie, Flodman Pamela, Burch Douglas, Spence M Anne

Abstract excerpt

PURPOSE: To map and identify the mutated gene for autosomal dominant cataract (ADC) in a large Chilean family (ADC53). DESIGN: Experimental study. PARTICIPANTS: Large Chilean family with ADCs. METHODS: Linkage analyses using genome-wide polymorphic DNA markers were performed on a family with variable expression of cataracts to map the mutated gene to a chromosome; 2-point lod scores were calculated. Candidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17234267
DOI: 10.1016/j.ophtha.2006.09.013

Genes

CRYBB2
CRYBB1
CRYBA4
CRYBB3

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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