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Article

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

Genetic testing and molecular biomarkers - 1 Oct 2009

Bonyadi Mortaza, Esmaeili Mohsen, Abhari Masoumeh, Lotfi Alireza

Abstract excerpt

AIMS: Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide. In this study, we assessed the contributions made by GJB2 and del(GJB6-D13S1830) mutations to the autosomal recessive nonsyndromic deafness genetic load in Iranian Azeri Turkish patients. RESULTS: Probands from 209 different nuclear families were investigated. GJB2...

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Source

Identifiers

PMID: 19715472
DOI: 10.1089/gtmb.2009.0026

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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