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Identification of two de novo variants causing inherited antithrombin deficiency by quantitative analysis of variant alleles.
Togashi, Tomoki; Nagaya, Satomi; Meguro-Horike, Makiko; Matsumoto, Haruto; Imai, Yuta; Yamaguchi, Koichi; Fujii, Yoshinari; Moriya, Haruka; Kikuchi, Yuika; Yasuda, Ibuki; Horike, Shin-Ichi; Morishita, Eriko.
Afiliación
  • 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.
  • 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.
  • Meguro-Horike M; Research Center for Experimental Modeling of Human Disease, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, 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.
  • 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.
  • Yamaguchi K; 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 Medical Technology, Faculty of Health Science, Tsukuba International University, 6-20-1 Tsuchiura, Iba
  • Fujii 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; Department of Medical Technology and Clinical Engineering, Faculty of Health and Medical Sciences, Hokuriku Universi
  • 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.
  • 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.
  • 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.
  • Horike SI; Research Center for Experimental Modeling of Human Disease, Kanazawa University, 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 ; 233: 37-40, 2024 01.
Article en En | MEDLINE | ID: mdl-37995440
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trombofilia / Deficiencia de Antitrombina III Idioma: En Revista: Thromb Res Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trombofilia / Deficiencia de Antitrombina III Idioma: En Revista: Thromb Res Año: 2024 Tipo del documento: Article