Associated Papers
De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.
Garrido-Rodríguez P et al.
Haematologica, 2026
Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H).
Chen W et al.
Stem Cell Research, 2023
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
Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.
Gemmati D et al.
Genes, 2021
Henoch-Schönlein Purpura Nephritis and Cerebral Venous Sinus Thrombosis Due to Hereditary Deficiency of Antithrombin III.
Wu H et al.
Indian Journal of Pediatrics, 2020
Genotype phenotype correlation in a pediatric population with antithrombin deficiency.
Kovac M et al.
European Journal of Pediatrics, 2019
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
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
Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.
Ding Q et al.
Thrombosis Research, 2013
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