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Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency.
Imai, Yuta; Nagaya, Satomi; Araiso, Yuhei; Meguro-Horike, Makiko; Togashi, Tomoki; Ohmori, Kensho; Makita, Yuka; Sato, Eiichi; Yujiri, Toshiaki; Nagamori, Yuta; Horike, Shin-Ichi; Watanabe, Atsushi; Morishita, Eriko.
Afiliación
  • Imai Y; Department of Clinical Laboratory Science, Graduate School of Medical Science, Division of Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Nagaya S; Department of Clinical Laboratory Science, Graduate School of Medical Science, Division of Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Araiso Y; Department of Clinical Laboratory Science, Graduate School of Medical Science, Division of Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Meguro-Horike M; Research Center for Experimental Modeling of Human Disease, Kanazawa University, Kanazawa, Ishikawa, Japan.
  • Togashi T; Department of Clinical Laboratory Science, Graduate School of Medical Science, Division of Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Ohmori K; Department of Clinical Laboratory Science, Graduate School of Medical Science, Division of Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Makita Y; Department of Clinical Laboratory Science, Graduate School of Medical Science, Division of Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Sato E; Department of Nephrology, Shinmatsudo Central General Hospital, Matsudo, Chiba, Japan.
  • Yujiri T; Department of Laboratory Science, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan.
  • Nagamori Y; Department of Cardiology, Public Central Hospital of Matto Ishikawa, Hakusan, Ishikawa, Japan.
  • Horike SI; Research Center for Experimental Modeling of Human Disease, Kanazawa University, Kanazawa, Ishikawa, Japan.
  • Watanabe A; Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa, Ishikawa, Japan.
  • Morishita E; Department of Clinical Laboratory Science, Graduate School of Medical Science, Division of Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan. eriko86@staff.kanazawa-u.ac.jp.
Int J Hematol ; 117(4): 523-529, 2023 Apr.
Article en En | MEDLINE | ID: mdl-36526880
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Antitrombina III / Trombofilia / Deficiencia de Antitrombina III Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Int J Hematol Asunto de la revista: HEMATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Antitrombina III / Trombofilia / Deficiencia de Antitrombina III Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Int J Hematol Asunto de la revista: HEMATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón