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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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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 |
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