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Article

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

Human genetics - 1 Jan 2004

Qi Yanhua, Jia Hongyan, Huang Shangzhi, Lin Hui, Gu Jingzhi, Su Hong, Zhang Tieying, Gao Ya, Qu Lijun, Li Dandan, Li Ying

Abstract excerpt

Congenital cataracts are an important cause of blindness worldwide. In a family of Chinese descent, a dominant congenital nuclear cataract locus was mapped to chromosome 17q11.1-12. The maximum LOD score, 2.49, at recombination fraction 0, was obtained for marker D17S1294. The results of both linkage and haplotype analyses defined a disease-gene to an 11.78-cM region harboring the gene coding for betaA1/A3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14598164
DOI: 10.1007/s00439-003-1049-7

Genes

CRYBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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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.PMID 14598164Read ↗

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