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Article

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

American journal of medical genetics - 17 Jan 2000

Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe K i, Kawase T, Narisawa K, Takasaka T

Abstract excerpt

Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients with prelingual deafness (group 1), 39 Japanese patients with postlingual progressive sensorineural hearing loss...

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Source

Identifiers

PMID: 10607953
DOI: 10.1002/(sici)1096-8628(20000117)90:2<141::aid-ajmg10>3.0.co;2-g

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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