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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,...

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Identifiers

PMID: 38474138
DOI: 10.3390/ijms25052893
PMCID: PMC10931778

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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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