Molecular epidemiology of DFNB1 deafness in France

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 prevalen...

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書誌詳細
出版年:BMC Med Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BMC 2004
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC385234/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15070423/
https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2350-5-5
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