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Article

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Hearing research - 1 May 2005

Kalay Ersan, Caylan Refik, Kremer Hannie, de Brouwer Arjan P M, Karaguzel Ahmet

Abstract excerpt

Mutations in the connexin 26 gene (GJB2) cause a significant proportion of prelingual non-syndromic autosomal recessive deafness in all populations studied so far. To determine the percentage of hearing loss attributed to GJB2 in northeast Turkey, 93 unrelated patients with autosomal recessive non-syndromic hearing loss (ARNSHL) were screened. Seven different mutations were found in 29 of the patients with severe...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15855033
DOI: 10.1016/j.heares.2004.11.022

Genes

GJB2
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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