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Article

Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.

Ophthalmic genetics - 1 Sept 2012

Wang Binbin, Wang Kai Jie, Zhu Si Quan, Wang Jing, Ma Xu

Abstract excerpt

PURPOSE: To report the recurrent p.R116H mutation in the αA-crystallin gene (CRYAA) which causes a novel variable cataract phenotype, and to determine whether this mutation represents a mutational hot spot. METHODS: Family history and clinical data were recorded. The genomic DNA was extracted from peripheral blood leukocytes. Microsatellite markers at loci considered to be associated with autosomal dominant...

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Source

Identifiers

PMID: 22216983
DOI: 10.3109/13816810.2011.642451

Genes

CRYAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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