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Article

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.

European journal of human genetics : EJHG - 1 Oct 2003

Mackay Donna S, Andley Usha P, Shiels Alan

Abstract excerpt

Hereditary cataract is a clinically and genetically heterogeneous lens disease that accounts for a significant proportion of visual impairment and blindness in childhood. The alphaA-crystallin (CRYAA) gene (CRYAA) encodes a member of the small-heat-shock protein (sHSP) family of molecular chaperones and is primarily and abundantly expressed in the ocular lens. Here, we have used linkage analysis to identify a...

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Source

Identifiers

PMID: 14512969
DOI: 10.1038/sj.ejhg.5201046

Genes

CRYAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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