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Phenotypic and Genotypic Analysis of a Hereditary Antithrombin Deficiency Pedigree Due to a Novel SERPINC1 Mutation (p.Met281Thr).

Hamostaseologie - 1 Dec 2020

Liu Siqi, Luo Shasha, Yang Lihong, Wang Mingshan, Jin Yanhui, Li Xiaolong, Xu Qiyu

Abstract excerpt

Antithrombin (AT) is one of the physiological anticoagulants that are mainly synthesized in the liver. As a protease inhibitor belonging to the serpin superfamily, AT is able to inactivate thrombin and inhibit activated coagulation factors IX, X, XI, and XII (FIXa, FXa, FXIa, and FXIIa).1 Moreover, it has been found that AT can inhibit activated FVII (FVIIa) by accelerating dissociation of FVIIa-tissue factor...

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PMID: 32450575
DOI: 10.1055/a-1145-4224

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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