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De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Belal, Hazrat; Nakashima, Mitsuko; Matsumoto, Hiroshi; Yokochi, Kenji; Taniguchi-Ikeda, Mariko; Aoto, Kazushi; Amin, Mohammed Badrul; Maruyama, Azusa; Nagase, Hiroaki; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Iijima, Kazumoto; Nonoyama, Shigeaki; Matsumoto, Naomichi; Saitsu, Hirotomo.
Afiliação
  • Belal H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.
  • Matsumoto H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
  • Yokochi K; Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
  • Taniguchi-Ikeda M; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Kita-ku, Hamamatsu, Japan.
  • Aoto K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aotake-cho, Toyohashi, Japan.
  • Amin MB; Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan.
  • Maruyama A; Department of Clinical Genetics, Fujita Health University Hospital, Dengakugakubo, Toyoake, Aichi, Japan.
  • Nagase H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.
  • Mizuguchi T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Higashi-ku, Hamamatsu, Japan.
  • Miyatake S; Enteric and Food Microbiology Laboratory, ICDDR,B, Dhaka, Bangladesh.
  • Miyake N; Department of Neurology, Hyogo Prefectural Kobe Children's Hospital, Chuo-ku, Kobe, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan.
  • Nonoyama S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Hum Mutat ; 39(8): 1070-1075, 2018 08.
Article em En | MEDLINE | ID: mdl-29768694
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao GTP / Proteínas rho de Ligação ao GTP / Proteínas Supressoras de Tumor / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao GTP / Proteínas rho de Ligação ao GTP / Proteínas Supressoras de Tumor / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão