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Article

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Journal of clinical laboratory analysis - 1 Nov 2021

Abbaspour Rodbaneh Ehsan, Panahi Mohammad, Rahimi Bahareh, Mokabber Haleh, Farajollahi Reza, Davarnia Behzad

Abstract excerpt

OBJECTIVE: Autosomal-recessive nonsyndromic hearing loss (ARNSHL) is a heterogeneous genetic disorder. Mutations in the gap junction protein beta 2 (GJB2) gene, encoding connexin 26, are a significant cause of ARNSHL in different ethnic groups. This study aimed to identify the frequency and type of GJB2 mutations in the Iranian Azeri population. METHODS: Fifty unrelated families presenting ARNSHL in Ardabil...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34581455
DOI: 10.1002/jcla.24024
PMCID: PMC8605150

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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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