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Identification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort.

Thrombosis research - 1 Apr 2026

Ochotnicka Joanna, Rupa-Matysek Joanna, Klajmon Adrianna, de la Morena-Barrio María Eugenia, de la Morena-Barrio Belén, Corral Javier, Undas Anetta, Wypasek Ewa

Abstract excerpt

INTRODUCTION: Inherited antithrombin (AT) deficiency, mainly caused by variants in the SERPINC1 gene, is a high-risk inherited thrombophilia. OBJECTIVES: We sought to characterize the molecular mechanisms underlying AT deficiency in a series of Polish patients including long-term follow-up data. PATIENTS AND METHODS: Twenty-nine unrelated probands (13 women [44.8%], mean [SD] age, 44.2 [13.0] years) with type I...

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PMID: 41861498
DOI: 10.1016/j.thromres.2026.109656

Genes

SERPINC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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