Mechanism of antithrombin deficiency due to the novel variant C32W in the C-terminus of the signal peptide.

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Title: Mechanism of antithrombin deficiency due to the novel variant C32W in the C-terminus of the signal peptide.
Authors: 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., 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., 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., Togashi M; Research Center for Experimental Modeling of Human Disease, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8640, Japan., Araiso 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., Nishiuchi T; 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. eriko86@staff.kanazawa-u.ac.jp.; Department of Hematology, Kanazawa University Hospital, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8640, Japan. eriko86@staff.kanazawa-u.ac.jp.
Source: International journal of hematology [Int J Hematol] 2025 Jul; Vol. 122 (1), pp. 35-44. Date of Electronic Publication: 2025 Feb 10.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-3774 (Electronic) Linking ISSN: 09255710 NLM ISO Abbreviation: Int J Hematol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1865-3774
DOI:10.1007/s12185-025-03945-x