Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.

Miyagawa, Maiko; Nishio, Shin-Ya; Kumakawa, Kozo; Usami, Shin-Ichi

Miyagawa, Maiko; Nishio, Shin-Ya; Kumakawa, Kozo; Usami, Shin-Ichi.

Afiliación

Miyagawa M; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
Nishio SY; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
Kumakawa K; Department of Otorhinolaryngology, Toranomon Hospital, Tokyo, Japan.
Usami S; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.

Ann Otol Rhinol Laryngol ; 124 Suppl 1: 148S-57S, 2015 May.

Article en En | MEDLINE | ID: mdl-25999546

Asunto(s)

Pueblo Asiatico/genética; Codón sin Sentido; Análisis Mutacional de ADN/métodos; Pérdida Auditiva/genética; Mutación Missense/fisiología; Cadenas Pesadas de Miosina/genética; Adolescente; Adulto; Anciano; Sordera/genética; Femenino; Humanos; Masculino; Linaje

Palabras clave

DFNA22; DFNB37; MYO6; genetics; hearing loss; massively parallel DNA; next generation sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Codón sin Sentido / Cadenas Pesadas de Miosina / Mutación Missense / Pueblo Asiatico / Pérdida Auditiva Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male Idioma: En Revista: Ann Otol Rhinol Laryngol Año: 2015 Tipo del documento: Article País de afiliación: Japón

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