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Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

Hearing impairment is one of the most common sensory disorders that affect ~1 in 1000 children, and half of them are considered to be hereditary. Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accurate genetic counseling to pre...

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Detalles Bibliográficos
Autores principales: Taniguchi, Mirei, Matsuo, Hirotaka, Shimizu, Seiko, Nakayama, Akiyoshi, Suzuki, Koji, Hamajima, Nobuyuki, Shinomiya, Nariyoshi, Nishio, Shinya, Kosugi, Shinji, Usami, Shin-ichi, Ito, Juichi, Kitajiri, Shin-ichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635169/
https://www.ncbi.nlm.nih.gov/pubmed/26178431
http://dx.doi.org/10.1038/jhg.2015.82