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Article

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

Molecular vision - 18 Apr 2008

Yang Juhua, Zhu Yihua, Gu Feng, He Xiang, Cao Zongfu, Li Xuexi, Tong Yi, Ma Xu

Abstract excerpt

PURPOSE: To identify the molecular defect underlying an autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Twenty-two members of a three-generation pedigree were recruited, clinical examinations were performed, and genomic DNA was extracted from peripheral blood leukocytes. All members were genotyped with polymorphic microsatellite markers adjacent to each of the known cataract-related...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 18432316
PMCID: PMC2324115

Genes

CRYBB1
CRYBA4
CRYBB2
CRYBB3

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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