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Article

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.

Investigative ophthalmology & visual science - 1 Oct 2000

Bateman J B, Geyer D D, Flodman P, Johannes M, Sikela J, Walter N, Moreira A T, Clancy K, Spence M A

Abstract excerpt

PURPOSE: To map the locus for autosomal dominant cataracts (ADCs) in a Brazilian family using candidate gene linkage analyses, describe the clinical variability, and identify potential mutations in the human betaA1-crystallin gene (CRYBA1), a candidate gene identified through linkage studies demonstrating cosegregation with markers on chromosome 17. METHODS: Members of a Brazilian family with ADC were studied....

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Source

Identifiers

PMID: 11006214

Genes

CRYBA1

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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