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Article

A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.

Molecular vision - 1 Jan 2011

Yang Guoxing, Zhai Xinling, Zhao Jialiang

Abstract excerpt

PURPOSE: Congenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. METHODS: Patients were given a physical examination and their blood samples were collected for DNA extraction. Genotyping...

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Source

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Identifiers

PMID: 21686330
PMCID: PMC3115749

Genes

CRYBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.PMID 21686330Read ↗

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A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.Semantic proximity Read ↗

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