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Novel ARX mutation identified in infantile spasm syndrome patient.
Takeshita, Yohei; Ohto, Tatsuyuki; Enokizono, Takashi; Tanaka, Mai; Suzuki, Hisato; Fukushima, Hiroko; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro; Takada, Hidetoshi.
Afiliação
  • Takeshita Y; Department of Pediatrics, Ibaraki Seinan Medical Center Hospital, Sakai-machi, Japan.
  • Ohto T; 2Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
  • Enokizono T; 3Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  • Tanaka M; 2Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
  • Suzuki H; 2Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
  • Fukushima H; 4Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Uehara T; 2Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
  • Takenouchi T; 3Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  • Kosaki K; 4Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Takada H; 4Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Hum Genome Var ; 7: 9, 2020.
Article em En | MEDLINE | ID: mdl-32257294
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article