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

作者信息

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

机构信息

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.

Research Center for Experimental Modeling of Human Disease, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, Japan.

出版信息

Thromb Res. 2024 Jan;233:37-40. doi: 10.1016/j.thromres.2023.11.016. Epub 2023 Nov 20.

DOI:10.1016/j.thromres.2023.11.016
PMID:37995440
Abstract
摘要

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