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Article

Molecular epidemiology of DFNB1 deafness in France.

BMC medical genetics - 6 Mar 2004

Roux Anne-Françoise, Pallares-Ruiz Nathalie, Vielle Anne, Faugère Valérie, Templin Carine, Leprevost Dorothée, Artières Françoise, Lina Geneviève, Molinari Nicolas, Blanchet Patricia, Mondain Michel, Claustres Mireille

Abstract excerpt

BACKGROUND: Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The preva...

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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: 15070423
DOI: 10.1186/1471-2350-5-5
PMCID: PMC385234

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15070423-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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