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Article

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

Human mutation - 1 Jan 2003

Zoll Barbara, Petersen Lars, Lange Katrin, Gabriel Peter, Kiese-Himmel Christiane, Rausch Peter, Berger Joachim, Pasche Bastian, Meins Moritz, Gross Manfred, Berger Roswitha, Kruse Eberhard, Kunz Jürgen, Sperling Karl, Laccone Franco

Abstract excerpt

Mutations in the connexin 26 gene (GJB2) are responsible for the major part of nonsyndromic autosomal recessive or apparently sporadic prelingual deafness in Caucasians (DFNB1). We screened 228 German hearing-impaired persons for mutations in the GJB2 gene by sequence analysis. Homozygous or compound heterozygous GJB2 mutations were detected in 38/228 (16.7%) of hearing impaired persons. The most frequently...

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Identifiers

PMID: 12497637
DOI: 10.1002/humu.9098

Genes

GJB2

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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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