Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations

Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations

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...

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Bibliographic Details
Main Authors: Judit Kállai, Réka Gindele, Krisztina Pénzes-Daku, Gábor Balogh, Réka Bogáti, Bálint Bécsi, Éva Katona, Zsolt Oláh, Péter Ilonczai, Zoltán Boda, Ágnes Róna-Tas, László Nemes, Imelda Marton, Zsuzsanna Bereczky
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:International Journal of Molecular Sciences
Subjects:
antithrombin
antithrombin deficiency
<i>SERPINC1</i> mutation
expression study
surface plasmon resonance
in silico methods
Online Access:https://www.mdpi.com/1422-0067/25/5/2893

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https://www.mdpi.com/1422-0067/25/5/2893

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