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Protein S deficiency caused by cryptic splicing due to the novel intron variant c.346+5G>C in PROS1.
Nagaya, Satomi; Togashi, Tomoki; Akiyama, Masaharu; Imai, Yuta; Matsumoto, Haruto; Moriya, Haruka; Meguro-Horike, Makiko; Yasuda, Ibuki; Kikuchi, Yuika; Kuwajima, Yamato; Horike, Shin-Ichi; Watanabe, Atsushi; Morishita, Eriko.
Afiliación
  • Nagaya S; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Togashi T; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Akiyama M; Department of Pediatrics, The Jikei University School of Medicine, 3-25-8 Nishishinbashi, Minato-ku, Tokyo 105-8471, Japan.
  • Imai Y; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Matsumoto H; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Moriya H; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Meguro-Horike M; Research Center for Experimental Modeling of Human Disease, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, Japan.
  • Yasuda I; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Kikuchi Y; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Kuwajima Y; Department of Clinical Laboratory Science, School of Health Sciences, College of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan.
  • Horike SI; Research Center for Experimental Modeling of Human Disease, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, Japan.
  • Watanabe A; Division of Clinical Genetics, Kanazawa University Hospital, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, Japan.
  • Morishita E; Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa 920-0942, Japan; Department of Hematology, Kanazawa University Hospital, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, Japan. Elect
Thromb Res ; 229: 26-30, 2023 Sep.
Article en En | MEDLINE | ID: mdl-37390525
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Thromb Res Año: 2023 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Thromb Res Año: 2023 Tipo del documento: Article País de afiliación: Japón