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Article

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Human mutation - 1 Sept 2000

Rabionet R, Gasparini P, Estivill X

Abstract excerpt

Deafness is a complex disorder that involves a high number of genes and environmental factors. There has been enormous progress in non-syndromic deafness research during the last five years, with the identification of over 50 loci and 15 genes. Among these, three genes, GJB2, GJB3, and GJB6, encode for connexin proteins (Connexin26, Connexin31, and Connexin30, respectively). Another connexin (Connexin32, encoded...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10980526
DOI: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I

Genes

GJB2
GJB3
GJB1
GJB6

Variants

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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