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De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.
Sakai, Yasunari; Fukai, Ryoko; Matsushita, Yuki; Miyake, Noriko; Saitsu, Hirotomo; Akamine, Satoshi; Torio, Michiko; Sasazuki, Momoko; Ishizaki, Yoshito; Sanefuji, Masafumi; Torisu, Hiroyuki; Shaw, Chad A; Matsumoto, Naomichi; Hara, Toshiro.
Afiliação
  • Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Fukai R; Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, 236-0004, Japan.
  • Matsushita Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, 236-0004, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, 236-0004, Japan.
  • Akamine S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Torio M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Sasazuki M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Ishizaki Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Sanefuji M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Torisu H; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
  • Shaw CA; Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuoka, 814-0193, Japan.
  • Matsumoto N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA.
  • Hara T; Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, 236-0004, Japan.
Ann Hum Genet ; 80(4): 235-40, 2016 Jul.
Article em En | MEDLINE | ID: mdl-27346735
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas de Transporte / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Child / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas de Transporte / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Child / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article