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Article

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.

Genetic testing and molecular biomarkers - 1 Oct 2009

Sansović Ivona, Knezević Jelena, Musani Vesna, Seeman Pavel, Barisić Ingeborg, Pavelić Jasminka

Abstract excerpt

The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the...

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Source

Identifiers

PMID: 19814620
DOI: 10.1089/gtmb.2009.0073

Genes

GJB2
GJB6
GJB3
WFS1

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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