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Article

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.

European journal of human genetics : EJHG - 1 Aug 2002

Wang Yi-Chun, Kung Chiu-Yun, Su Mao-Chang, Su Ching-Chyuan, Hsu Hsiu-Mei, Tsai Chin-Chu, Lin Chyi-Chyang, Li Shuan-Yow

Abstract excerpt

Mutations in the Cx26 (GJB2) gene have been shown to be responsible for a major part of autosomal recessive non-syndromic inherited prelingual deafness. We have sequenced the coding region of GJB2 gene from 169 Taiwanese patients with prelingual deafness and 100 unrelated normal individuals. In the deaf patients, three mutations were found: two novel mutations, 551G-->A, and 299-300delAT, and one previously...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12111646
DOI: 10.1038/sj.ejhg.5200838

Genes

GJB2

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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