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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects

BACKGROUND: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear...

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Detalles Bibliográficos
Autores principales: Nonose, Renata Watanabe, Lezirovitz, Karina, de Mello Auricchio, Maria Teresa Balester, Batissoco, Ana Carla, Yamamoto, Guilherme Lopes, Mingroni-Netto, Regina Célia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941635/
https://www.ncbi.nlm.nih.gov/pubmed/29739340
http://dx.doi.org/10.1186/s12881-018-0585-x