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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Niihori, Tetsuya; Nagai, Koki; Fujita, Atsushi; Ohashi, Hirofumi; Okamoto, Nobuhiko; Okada, Satoshi; Harada, Atsuko; Kihara, Hirotaka; Arbogast, Thomas; Funayama, Ryo; Shirota, Matsuyuki; Nakayama, Keiko; Abe, Taiki; Inoue, Shin-Ichi; Tsai, I-Chun; Matsumoto, Naomichi; Davis, Erica E; Katsanis, Nicholas; Aoki, Yoko.
Afiliação
  • Niihori T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: tniihori@med.tohoku.ac.jp.
  • Nagai K; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama 330-8777, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka 594-1101, Japan.
  • Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8551, Japan.
  • Harada A; Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka 569-1192, Japan.
  • Kihara H; Department of Pediatrics, Onomichi General Hospital, Hiroshima 722-8508, Japan.
  • Arbogast T; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Funayama R; Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
  • Shirota M; Division of Interdisciplinary Medical Sciences, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
  • Nakayama K; Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
  • Abe T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
  • Inoue SI; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
  • Tsai IC; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: katsanis@cellbio.duke.edu.
  • Aoki Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
Am J Hum Genet ; 104(6): 1233-1240, 2019 06 06.
Article em En | MEDLINE | ID: mdl-31130285
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Mutação em Linhagem Germinativa / Proteínas Monoméricas de Ligação ao GTP / Mutação com Ganho de Função / Proteínas de Membrana / Síndrome de Noonan Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Mutação em Linhagem Germinativa / Proteínas Monoméricas de Ligação ao GTP / Mutação com Ganho de Função / Proteínas de Membrana / Síndrome de Noonan Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos