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Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi, Takeshi; Nakashima, Mitsuko; Kato, Mitsuhiro; Okamoto, Nobuhiko; Kurahashi, Hirokazu; Ekhilevitch, Nina; Shiina, Masaaki; Nishimura, Gen; Shibata, Takashi; Matsuo, Muneaki; Ikeda, Tae; Ogata, Kazuhiro; Tsuchida, Naomi; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Hata, Kenichiro; Kaname, Tadashi; Matsubara, Yoichi; Saitsu, Hirotomo; Matsumoto, Naomichi.
Afiliación
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka 594-1101, Japan.
  • Kurahashi H; Department of Pediatrics, Aichi Medical University, Aichi 480-1195, Japan.
  • Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Nishimura G; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama 350-0495, Japan.
  • Shibata T; Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.
  • Matsuo M; Department of Pediatrics, Saga University Faculty of Medicine, Saga 849-8501, Japan.
  • Ikeda T; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka 594-1101, Japan.
  • Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Mitsuhashi S; 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.
  • Takata A; Clinical Genetics Department, Yokohama City University Hospital, Yokohama 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Hata K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Kaname T; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
  • Matsubara Y; Department of Genome Medicine, National Center for Child Health and Development, Tokyo 157-8535, Japan.
  • Saitsu H; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
  • Matsumoto N; National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
Hum Mol Genet ; 27(8): 1421-1433, 2018 04 15.
Article en En | MEDLINE | ID: mdl-29432562
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Artrogriposis / Espasmos Infantiles / Anomalías Craneofaciales / Calcineurina / Enanismo / Mutación con Ganancia de Función / Mutación con Pérdida de Función Tipo de estudio: Prognostic_studies Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Artrogriposis / Espasmos Infantiles / Anomalías Craneofaciales / Calcineurina / Enanismo / Mutación con Ganancia de Función / Mutación con Pérdida de Función Tipo de estudio: Prognostic_studies Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Japón