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Article

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.

Molecular vision - 15 May 2009

Safieh L Abu, Khan A O, Alkuraya F S

Abstract excerpt

PURPOSE: To describe the first cataract-causing recessive mutation in the crystalline, alpha-b gene CRYAB. METHODS: Homozygosity mapping complemented by linkage analysis was performed in a family with autosomal recessive juvenile cataract. RESULTS: A homozygous missense mutation in CRYAB was identified. The mutation replaces a highly conserved amino acid residue in a dual function domain of the protein. None of...

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Source

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Identifiers

PMID: 19461931
PMCID: PMC2684560

Genes

CRYAB

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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