Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

BACKGROUND: Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa Islands are the southwestern-most islands of the Japanese archipelago. And ancestral differences have been reported between people from Okin...

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Detalles Bibliográficos
Autores principales: Ganaha, Akira, Kaname, Tadashi, Yanagi, Kumiko, Naritomi, Kenji, Tono, Tetsuya, Usami, Shin-ichi, Suzuki, Mikio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664218/
https://www.ncbi.nlm.nih.gov/pubmed/23705809
http://dx.doi.org/10.1186/1471-2350-14-56

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664218/
https://www.ncbi.nlm.nih.gov/pubmed/23705809
http://dx.doi.org/10.1186/1471-2350-14-56

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