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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Hamanaka, Kohei; Imagawa, Eri; Koshimizu, Eriko; Miyatake, Satoko; Tohyama, Jun; Yamagata, Takanori; Miyauchi, Akihiko; Ekhilevitch, Nina; Nakamura, Fumio; Kawashima, Takeshi; Goshima, Yoshio; Mohamed, Ahmad Rithauddin; Ch'ng, Gaik-Siew; Fujita, Atsushi; Azuma, Yoshiteru; Yasuda, Ken; Imamura, Shintaro; Nakashima, Mitsuko; Saitsu, Hirotomo; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Matsumoto, Naomichi.
Afiliação
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Tohyama J; Department of Pediatrics, National Hospital Organization Nishi-Niigata Chuo National Hospital, Niigata 950-2085, Japan.
  • Yamagata T; Department of Pediatrics, Jichi Medical University, Tochigi 329-0498, Japan.
  • Miyauchi A; Department of Pediatrics, Jichi Medical University, Tochigi 329-0498, Japan.
  • Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Nakamura F; Department of Biochemistry, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
  • Kawashima T; Department of Molecular Pharmacology and Neurobiology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Goshima Y; Department of Molecular Pharmacology and Neurobiology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Mohamed AR; Department of Pediatric Neurology Unit, Pediatric Institute, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Ch'ng GS; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Yasuda K; Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan.
  • Imamura S; Reserch Center for Biochemistry and Food Technology, National Research Institute of Fisheries Science, Yokohama 236-8648, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka 431-3192, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka 431-3192, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Am J Hum Genet ; 106(4): 549-558, 2020 04 02.
Article em En | MEDLINE | ID: mdl-32169168
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Éxons / Predisposição Genética para Doença / Epilepsias Mioclônicas Progressivas / Semaforinas / Exoma Limite: Adolescent / Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Éxons / Predisposição Genética para Doença / Epilepsias Mioclônicas Progressivas / Semaforinas / Exoma Limite: Adolescent / Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article