Associated Papers
De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.
Garrido-Rodríguez P et al.
Haematologica, 2026
Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
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
Comprehensive review of thrombophilia: pathophysiology, prevalence, risk factors, and molecular diagnosis.
Altwayan R et al.
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2025
A retrospective study of the management and outcomes of pregnancies with inherited antithrombin deficiency.
Du Z et al.
The Journal of Obstetrics and Gynaecology Research, 2024
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Cifuentes R et al.
International Journal of Molecular Sciences, 2023
36902454 (PubMed )
Supplement: ijms-24-05023-s001.zip › ijms-2244324-supplementary.pdf
Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.
Wang HL et al.
Thrombosis Journal, 2023
Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.
Vrtel P et al.
Diagnostics (basel, Switzerland), 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.
Sekiya A et al.
International Journal of Hematology, 2017
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
Puurunen M et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Select a paper to view details