Associated Papers
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
Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?
Orlando C et al.
Thrombosis and Haemostasis, 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
Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.
Zhang Z et al.
Communications Biology, 2025
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
[Advances in the genetics of venous thromboembolic disease].
Xia YQ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Thrombophilia Screening: Not So Straightforward.
Moore GW
Seminars in Thrombosis and Hemostasis, 2024
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Cifuentes R et al.
International Journal of Molecular Sciences, 2023
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.
Bravo-Pérez C et al.
American Journal of Hematology, 2022
Missense mutation of SERPINC1 (p.Ser426Leu) in a young patient presenting as refractory and recurrent venous thromboembolism: A case report.
Yu H et al.
Frontiers in Cardiovascular Medicine, 2022
Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH.
Van Cott EM et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.
Wang D et al.
Frontiers of Medicine, 2018
Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism.
Halvorsen M et al.
Ebiomedicine, 2017
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Discordant diagnoses obtained by different approaches in antithrombin mutation analysis.
Feddersen S et al.
Clinical Biochemistry, 2014
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
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