Publicacións en colaboración con investigadores/as de Jagiellonian University (9)

2023

  1. Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype

    Thrombosis and haemostasis, Vol. 123, Núm. 9, pp. 880-891

  2. Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

    Haematologica

2022

  1. Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

    Thrombosis and Haemostasis, Vol. 122, Núm. 8, pp. 1369-1378

2019

  1. A series of 10 Polish patients with thromboembolic events and antithrombin deficiency: Two new c.1154-1 G>C and c.1219-534 A>G SERPINC1 gene splicing mutations

    Blood Coagulation and Fibrinolysis, Vol. 30, Núm. 5, pp. 193-198

  2. MPI-CDG with transient hypoglycosylation and antithrombin deficiency

    Haematologica, Vol. 104, Núm. 2, pp. e79-e82

2018

  1. Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6

    Thrombosis and Haemostasis

2017

  1. Defects of splicing in antithrombin deficiency

    Research and Practice in Thrombosis and Haemostasis, Vol. 1, Núm. 2, pp. 216-222

  2. High levels of latent antithrombin in plasma from patients with antithrombin deficiency

    Thrombosis and Haemostasis, Vol. 117, Núm. 5, pp. 880-888

2016

  1. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

    Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 8, pp. 1549-1560