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Article

[Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2003

Qi Yan-hua, Jia Hong-yan, Huang Shang-zhi, Lin Hui, Gu Jing-zhi, Su Hong, Zhang Tie-ying, Gao Ya

Abstract excerpt

OBJECTIVE: To identify the genetic defect causing automosal dominant congenital cataracts (ADCC) with nuclear opacities in a Chinese pedigree. METHODS: Linkage analysis was carried out with the short tandem repeat polymorphisms flanking the candidate genes. Mutation analysis of the candidate gene in the critical region was performed to detect the potential mutation. RESULTS: The cataract locus in this pedigree...

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Source

Identifiers

PMID: 14669215

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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