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De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
Suzuki, Hisato; Li, Simo; Tokutomi, Tomoharu; Takeuchi, Chisen; Takahashi, Miyuki; Yamada, Mamiko; Okuno, Hironobu; Miya, Fuyuki; Takenouchi, Toshiki; Numabe, Hironao; Kosaki, Kenjiro; Ohshima, Toshio.
Afiliação
  • Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Li S; Department of Life Science and Medical Bio-Science, Waseda University, Tokyo, Japan.
  • Tokutomi T; Department of Clinical Genetics, Iwate Medical University, Iwate, Japan.
  • Takeuchi C; Department of Neurology, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan.
  • Takahashi M; Department of Life Science and Medical Bio-Science, Waseda University, Tokyo, Japan.
  • Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Okuno H; Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
  • Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Numabe H; Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Ohshima T; Department of Life Science and Medical Bio-Science, Waseda University, Tokyo, Japan.
Hum Mol Genet ; 31(24): 4173-4182, 2022 12 16.
Article em En | MEDLINE | ID: mdl-35861646
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Deficiência Intelectual Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Deficiência Intelectual Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article