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Article

HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.

Human mutation - 1 Sept 2014

Jing Zhe, Gangalum Rajendra K, Bhat Ankur M, Nagaoka Yoshiko, Jiang Meisheng, Bhat Suraj P

Abstract excerpt

The p.Arg116His mutation in the heat shock transcription factor-4 (HSF4) has been associated with age-related cataracts, but it is also seen in 2% of the normal population, indicating either reduced penetrance or that the normal subjects were not old enough to express the phenotype. Based on the...

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Source

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Identifiers

PMID: 24975927
DOI: 10.1002/humu.22610
PMCID: PMC4134754

Genes

HSF4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24975927-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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