Ontology highlight
ABSTRACT:
SUBMITTER: Reda S
PROVIDER: S-EPMC7924598 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Reda Sara S Müller Jens J Pavlova Anna A Pezeshkpoor Behnaz B Oldenburg Johannes J Pötzsch Bernd B Rühl Heiko H
International journal of molecular sciences 20210220 4
Inactivation of thrombin by the endogenous inhibitor antithrombin (AT) is a central mechanism in the regulation of hemostasis. This makes hereditary AT deficiency, which is caused by SERPINC1 gene mutations, a major thrombophilic risk factor. Aim of this study was to assess to what extent AT mutations impair thrombin inhibition kinetics. The study population included 36 thrombophilic patients with 19 different mutations and mean AT levels of 65% in a thrombin-based functional assay, and 26 healt ...[more]