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A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
Masuda, Masatsugu; Mutai, Hideki; Arimoto, Yukiko; Nakano, Atsuko; Matsunaga, Tatsuo.
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  • Masuda M; Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka Meguro-ku, Tokyo 152-8902, Japan; Department of Otolaryngology, School of Medicine, Kyorin University, 6-20-2 Shinkawa, Mitaka-shi, Tokyo 181-8611, Japan. E
  • Mutai H; Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka Meguro-ku, Tokyo 152-8902, Japan. Electronic address: mutaihideki@kankakuki.go.jp.
  • Arimoto Y; Department of Otolaryngology, Chiba Children's Hospital, 579-1 Hetacho, Midori-ku, Chiba-shi, Chiba 266-0007, Japan. Electronic address: y.armt1@pref.chiba.lg.jp.
  • Nakano A; Department of Otolaryngology, Chiba Children's Hospital, 579-1 Hetacho, Midori-ku, Chiba-shi, Chiba 266-0007, Japan. Electronic address: a.nkn@pref.chiba.lg.jp.
  • Matsunaga T; Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka Meguro-ku, Tokyo 152-8902, Japan; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka Meguro-ku, Tokyo 152-8902
Biochem Biophys Res Commun ; 469(2): 270-4, 2016 Jan 08.
Article en En | MEDLINE | ID: mdl-26631968
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de la Matriz Extracelular / Mutación del Sistema de Lectura / Predisposición Genética a la Enfermedad / Haploinsuficiencia / Pérdida Auditiva Sensorineural Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Humans / Male / Middle aged Idioma: En Revista: Biochem Biophys Res Commun Año: 2016 Tipo del documento: Article
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de la Matriz Extracelular / Mutación del Sistema de Lectura / Predisposición Genética a la Enfermedad / Haploinsuficiencia / Pérdida Auditiva Sensorineural Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Humans / Male / Middle aged Idioma: En Revista: Biochem Biophys Res Commun Año: 2016 Tipo del documento: Article