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Article

A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.

Human mutation - 1 Jan 2011

Wang Binbin, Yu Changhong, Xi Yi-Bo, Cai Hong-Chen, Wang Jing, Zhou Sirui, Zhou Shiyi, Wu Yi, Yan Yong-Bin, Ma Xu, Xie Lixin

Abstract excerpt

To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the CRYGD gene revealed a c.127T>C transition, which resulted in a substitut...

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Source

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Identifiers

PMID: 21031598
DOI: 10.1002/humu.21386
PMCID: PMC3035819

Genes

CRYGD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21031598-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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