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Article

[Analysis on mutations of GJB2 gene in Chinese population].

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

Li Jian-rui, Chen Ying, Guo Wan-bei, Li Ling-xiang, Li Ru-qing

Abstract excerpt

OBJECTIVE: To determine the prevalence and types of GJB2 mutations and to investigate the genetic mechanism in Chinese autosomal recessive deafness. METHODS: The subjects were four Chinese pedigrees (39 individuals) and 50 normal adults. GJB2 was amplified by PCR. The products were digested with restriction enzyme Apa I, then sequenced. RESULTS: Homozygous deletion C at position 232-235 of GJB2 (235delC),which...

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Source

Identifiers

PMID: 14556203

Genes

GJB2

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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