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Article

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.

European journal of human genetics : EJHG - 1 Jul 2002

Frei Klemens, Szuhai Károly, Lucas Trevor, Weipoltshammer Klara, Schöfer Christian, Ramsebner Reinhard, Baumgartner Wolf-Dieter, Raap Anton K, Bittner Reginald, Wachtler Franz J, Kirschhofer Karin

Abstract excerpt

Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with autosomal nonsyndromic sensorineural hearing loss. This study describes mutations in the Cx26 gene in cases of familial and sporadic hearing loss (HL) by gene sequencing and identifies the allelic frequency of the most common mutation leading to HL (35delG) in the population of eastern Austria. For this purpose we have developed and applied a...

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Source

Identifiers

PMID: 12107817
DOI: 10.1038/sj.ejhg.5200826

Genes

GJB2

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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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