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Article

[Mutation analysis of CRYBB1 gene and prenatal diagnosis for a Chinese kindred featuring autosomal dominant congenital nuclear cataract].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2013

Wu Qinghua, Shi Huirong, Liu Ning, Lu Ning, Jiang Miao, Zhao Zhenhua, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To perform mutation screening and prenatal diagnosis for a five-generation Chinese pedigree with autosomal dominant congenital nuclear cataract from Henan province by DNA sequencing. METHODS: Blood samples were taken from the family members. Four candidate genes (CRYBA1/A3, CRYBB1, CRYBB2 and CRYGD) were screened for mutations using direct sequencing. Prenatal genetic diagnosis was provided for a fetus...

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Source

Identifiers

PMID: 23744311
DOI: 10.3760/cma.j.issn.1003-9406.2013.03.003

Genes

CRYBB1
CRYBA1
CRYBB2
CRYGD

Variants

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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