A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

Wasano, Koichiro; Mutai, Hideki; Obuchi, Chie; Masuda, Sawako; Matsunaga, Tatsuo

Wasano, Koichiro; Mutai, Hideki; Obuchi, Chie; Masuda, Sawako; Matsunaga, Tatsuo.

Afiliação

Wasano K; Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan; Department of Otolaryngology, Japanese Red Cross Shizuoka Hospital, 8-2 Outemachi, Aoi-ku, Shizuoka 420-0853, Japan. Electro
Mutai H; Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan. Electronic address: mutaihideki@kankakuki.go.jp.
Obuchi C; Department of Speech and Hearing Sciences, International University of Health and Welfare, 2600-1 Kitakanemaru, Otawara, Tochigi 324-8501, Japan. Electronic address: cobuchi@iuhw.ac.jp.
Masuda S; Department of Otorhinolaryngology, National Mie Hospital, 357 Osato-Kubota, Tsu, Mie 514-0125, Japan. Electronic address: masudas@mie-m.hosp.go.jp.
Matsunaga T; Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Ja

Biochem Biophys Res Commun ; 463(4): 582-6, 2015 Aug 07.

Article em En | MEDLINE | ID: mdl-26036578

Assuntos

Mutação da Fase de Leitura; Genes Recessivos; Perda Auditiva/genética; Canais de Potássio KCNQ/genética; Adulto; Feminino; Humanos; Síndrome do QT Longo/genética; Masculino; Linhagem

Palavras-chave

Autosomal recessive; C-terminus; Frameshift mutation; Hereditary hearing loss; KCNQ4

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Canais de Potássio KCNQ / Genes Recessivos / Perda Auditiva Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Biochem Biophys Res Commun Ano de publicação: 2015 Tipo de documento: Article

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