Identification of two de novo variants causing inherited antithrombin deficiency by quantitative analysis of variant alleles.

Autor: 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, Ibaraki 300-0051, Japan., 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 University, 1-1 Taiyogaoka, Kanazawa, Ishikawa 920-1180, 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., 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. Electronic address: eriko86@staff.kanazawa-u.ac.jp.
Jazyk: angličtina
Zdroj: Thrombosis research [Thromb Res] 2024 Jan; Vol. 233, pp. 37-40. Date of Electronic Publication: 2023 Nov 20.
DOI: 10.1016/j.thromres.2023.11.016
Abstrakt: Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
Databáze: MEDLINE