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Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population()

INTRODUCTION: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making i...

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Detalles Bibliográficos
Autores principales: Felix, Felippe, Ribeiro, Marcia Gonçalves, Tomita, Shiro, Zalis, Mariano Gustavo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9442831/
https://www.ncbi.nlm.nih.gov/pubmed/29773520
http://dx.doi.org/10.1016/j.bjorl.2017.10.013

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