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Article

GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

Journal of genetics - 1 Apr 2008

Baysal Elif, Bayazit Yildirim A, Ceylaner Serdar, Alatas Necat, Donmez Buket, Ceylaner Gulay, San Imran, Korkmaz Baki, Yilmaz Akin, Menevse Adnan, Altunyay Senay, Gunduz Bulent, Goksu Nebil, Arslan Ahmet, Ekmekci Abdullah

Abstract excerpt

This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls. Ninety-five patients with profound hearing loss (>90 dB) and 67 healthy controls were included. All patients had genetic nonsyndromic hearing loss. Molecular analyses were performed for connexin 26 (35delG, M34T, L90P,...

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Source

Identifiers

PMID: 18560174
DOI: 10.1007/s12041-008-0007-5

Genes

GJB2

Variants

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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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