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Article

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

Human mutation - 1 Jun 2004

Tóth Tímea, Kupka Susan, Haack Birgit, Riemann Kathrin, Braun Simone, Fazakas Ferenc, Zenner Hans-Peter, Muszbek László, Blin Nikolaus, Pfister Markus, Sziklai István

Abstract excerpt

Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy control individuals and a group of patients with HI from Northeastern Hungary for GJB2 mutations. The patients' group...

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Source

Identifiers

PMID: 15146474
DOI: 10.1002/humu.9250

Genes

GJB2

Variants

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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GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.PMID 15146474Read ↗

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GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.Semantic proximity Read ↗

Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.Semantic proximity Read ↗

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.Semantic proximity Read ↗

Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.Semantic proximity Read ↗

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.Semantic proximity Read ↗

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