Article
Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations.
International journal of molecular sciences - 1 Mar 2024
Kállai Judit, Gindele Réka, Pénzes-Daku Krisztina, Balogh Gábor, Bogáti Réka, Bécsi Bálint, Katona Éva, Oláh Zsolt, Ilonczai Péter, Boda Zoltán, Róna-Tas Ágnes, Nemes László, Marton Imelda, Bereczky Zsuzsanna
Abstract excerpt
Antithrombin (AT) is the major plasma inhibitor of thrombin (FIIa) and activated factor X (FXa), and antithrombin deficiency (ATD) is one of the most severe thrombophilic disorders. In this study, we identified nine novel AT mutations and investigated their genotype-phenotype correlations. Clinical and laboratory data from patients were collected, and the nine mutant AT proteins (p.Arg14Lys, p.Cys32Tyr,...
Topics
- Humans
- Antithrombins
- HEK293 Cells
- Anticoagulants
- Heparin
- Mutation
- Antithrombin III Deficiency