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
Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.
Zhang Z et al.
Communications Biology, 2025
40221599 (PubMed )
Supplement: 42003_2025_7935_MOESM1_ESM.pdf
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
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
How I treat heterozygous hereditary antithrombin deficiency in pregnancy.
Bramham K et al.
Thrombosis and Haemostasis, 2013
Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.
Picard V et al.
Human Mutation, 2006
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