Associated Papers
De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.
Garrido-Rodríguez P et al.
Haematologica, 2026
A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities.
Chen C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Hidden antithrombin defects: time to change and improve our thrombophilia diagnostic approach.
Corral J et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant.
Bravo-Pérez C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics.
Kruijt M et al.
Mass Spectrometry Reviews, 2025
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Thrombophilia Screening: Not So Straightforward.
Moore GW
Seminars in Thrombosis and Hemostasis, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C et al.
Jci Insight, 2022
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.
Bravo-Pérez C et al.
American Journal of Hematology, 2022
New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.
Nowak W et al.
Polish Archives of Internal Medicine, 2022
Portal Vein Thrombosis in a Patient with Hereditary Antithrombin Deficiency.
Setaka T et al.
Internal Medicine (tokyo, Japan), 2019
High levels of latent antithrombin in plasma from patients with antithrombin deficiency.
de la Morena-Barrio M et al.
Thrombosis and Haemostasis, 2017
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Inherited Anti-Thrombin Deficiency in A Malay-Malaysian Family: A Missense Mutation at Nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene.
Norlelawati AT et al.
The Medical Journal of Malaysia, 2014
Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.
Miyata T et al.
Thrombosis Research, 2009
Molecular defects associated with antithrombin deficiency and dilated cardiomyopathy in a Japanese patient.
Fujimori Y et al.
Internal Medicine (tokyo, Japan), 2008