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 prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be...
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