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Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome.
Hamada, Nanako; Ito, Hidenori; Shibukawa, Yukinao; Morishita, Rika; Iwamoto, Ikuko; Okamoto, Nobuhiko; Nagata, Koh-Ichi.
Afiliação
  • Hamada N; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.
  • Ito H; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.
  • Shibukawa Y; Department of Molecular Medicine, Research Institute, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Morishita R; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.
  • Iwamoto I; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.
  • Okamoto N; Department of Molecular Medicine, Research Institute, Osaka Women's and Children's Hospital, Osaka, Japan; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan. Electronic address: knagata@inst-hsc.jp.
Biochem Biophys Res Commun ; 529(4): 1033-1037, 2020 09 03.
Article em En | MEDLINE | ID: mdl-32819561

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Predisposição Genética para Doença / Proteína cdc42 de Ligação ao GTP / Polimorfismo de Nucleotídeo Único / Mutação Limite: Animals Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Predisposição Genética para Doença / Proteína cdc42 de Ligação ao GTP / Polimorfismo de Nucleotídeo Único / Mutação Limite: Animals Idioma: En Ano de publicação: 2020 Tipo de documento: Article