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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Hamanaka, Kohei; Miyatake, Satoko; Koshimizu, Eriko; Tsurusaki, Yoshinori; Mitsuhashi, Satomi; Iwama, Kazuhiro; Alkanaq, Ahmed N; Fujita, Atsushi; Imagawa, Eri; Uchiyama, Yuri; Tawara, Nozomu; Ando, Yukio; Misumi, Yohei; Okubo, Mariko; Nakashima, Mitsuko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Iida, Aritoshi; Nishino, Ichizo; Matsumoto, Naomichi.
Afiliación
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Koshimizu E; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Mitsuhashi S; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
  • Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Alkanaq AN; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Tawara N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Ando Y; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Kumamoto, Japan.
  • Misumi Y; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Kumamoto, Japan.
  • Okubo M; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Kumamoto, Japan.
  • Nakashima M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • Mizuguchi T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Iida A; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
  • Nishino I; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • Matsumoto N; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Genet Med ; 21(7): 1629-1638, 2019 07.
Article en En | MEDLINE | ID: mdl-30467404
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Análisis de Secuencia de ARN / Miopatías Nemalínicas Tipo de estudio: Evaluation_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Análisis de Secuencia de ARN / Miopatías Nemalínicas Tipo de estudio: Evaluation_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón