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
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
Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency.
Kim S et al.
Frontiers in Neurology, 2022
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
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J et al.
Scientific Reports, 2018
Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.
Sekiya A et al.
International Journal of Hematology, 2017
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
Kim HJ et al.
Haematologica, 2014
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
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