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Article

Contribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan.

Biochemical genetics - 1 Aug 2013

Bukhari Ihtisham, Mujtaba Ghulam, Naz Sadaf

Abstract excerpt

Mutations of GJB2, which encodes connexin 26, are the most common cause of hereditary hearing loss in many human populations. This study was initiated to determine the prevalence of GJB2 mutations in individuals with hearing loss from the Hazara Division in Pakistan. We recruited 70 participants with nonsyndromic deafness segregating as an apparently recessive trait and directly sequenced the GJB2 coding region...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23504403
DOI: 10.1007/s10528-013-9583-z
PMCID: PMC3708968

Genes

GJB2

Variants

Provenance

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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