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
Real-time imaging of blood coagulation and angiogenesis during development in a zebrafish model of type I antithrombin deficiency.
Imai Y et al.
Scientific Reports, 2025
Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report.
Lin M et al.
Medicine, 2024
Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.
Garrido-Rodríguez P et al.
Plos One, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
Natorska J et al.
Thrombosis and Haemostasis, 2023
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Cifuentes R et al.
International Journal of Molecular Sciences, 2023
Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency.
Kim S et al.
Frontiers in Neurology, 2022
Antithrombin deficiency as a cause of aortic valve thrombosis in a bicuspid aortic valve.
Rekondo Olaetxea J et al.
Revista Espanola De Cardiologia (english Ed.), 2021
Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
Bravo-Pérez C et al.
British Journal of Haematology, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Incidence and features of thrombosis in children with inherited antithrombin deficiency.
de la Morena-Barrio B et al.
Haematologica, 2019
Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency.
Park ES et al.
Blood Research, 2018
Defects of splicing in antithrombin deficiency.
de la Morena-Barrio ME et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.
Wypasek E et al.
Polish Archives of Internal Medicine, 2017
Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.
Sekiya A et al.
International Journal of Hematology, 2017
The superiority of anti-FXa assay over anti-FIIa assay in detecting heparin-binding site antithrombin deficiency.
Kovács B et al.
American Journal of Clinical Pathology, 2013