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Article

A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.

Biochimica et biophysica acta - 1 Oct 2009

Bhagyalaxmi S G, Srinivas Pnbs, Barton Kelly A, Kumar K Ravi, Vidyavathi M, Petrash J Mark, Bhanuprakash Reddy G, Padma T

Abstract excerpt

Age-related cataract (ARC) is a multifactorial disease and the leading cause of blindness worldwide. Genetic predisposition in association with other etiological factors may contribute to ARC. However, gene mutation studies on ARC are scanty. In the present work, we identified a genetic variation (F71L) in the exon-2 of CRYAA (alphaA-crystallin) gene in three unrelated female sporadic cases among 711 ARC patients...

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Source

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Identifiers

PMID: 19595763
DOI: 10.1016/j.bbadis.2009.06.011
PMCID: PMC3816373

Genes

ARC
CRYAA

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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