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Article

Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.

The Journal of laryngology and otology - 1 Aug 2012

Battelino S, Repič Lampret B, Zargi M, Podkrajšek K Trebušak

Abstract excerpt

OBJECTIVE: Mutations in the gap junction protein beta-2 gene ('GJB2') are known to be responsible for mild to profound congenital and late-onset hearing loss. This study aimed to investigate the molecular basis of progressive hearing loss compared with non-progressive hearing loss. METHODS: Following clinical otorhinolaryngological evaluation, a genetic analysis was performed in a cohort of 72 patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22704424
DOI: 10.1017/S0022215112001119

Genes

GJB2
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.PMID 22704424Read ↗

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