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Article

Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Jun 2014

Varga L, Mašindová I, Hučková M, Kabátová Z, Gašperíková D, Klimeš I, Profant M

Abstract excerpt

Hereditary etiology plays an important role in bilateral profound deafness as a main indication for cochlear implantation. Mutations in DFNB1 locus account for most of the inherited deafness cases in Caucasians. To provide actual data on mutation prevalence among implanted deaf subpopulation, we performed DNA analysis of GJB2 and GJB6 genes in 131 unrelated Slovak cochlear implant users. Eight previously...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23700267
DOI: 10.1007/s00405-013-2559-0

Genes

GJB6
GJB2

Variants

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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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