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Article

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Molecular vision - 10 Jul 2009

Chen Qiang, Ma Junjie, Yan Ming, Mothobi Maneo Emily, Liu Yuanyuan, Zheng Fang

Abstract excerpt

PURPOSE: To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain reaction (PCR)...

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Source

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Identifiers

PMID: 19597569
PMCID: PMC2709425

Genes

CRYAB

Variants

Provenance

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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