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
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_S4.xlsx › Sheet1
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
Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family.
Deng H et al.
Journal of Thrombosis and Thrombolysis, 2013
[Phenotypic detection and structure analysis of a PC missense mutation (Met406Ile) resulted in venous thromboembolism].
Zhang L et al.
Zhonghua Yi Xue Za Zhi, 2013
[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].
Deng HY et al.
Zhonghua Yi Xue Za Zhi, 2013
Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation.
Deng H et al.
Journal of Thrombosis and Thrombolysis, 2012
Structural and mechanistic analysis of protein interactions in module 3 of the 6-deoxyerythronolide B synthase.
Tang Y et al.
Chemistry & Biology, 2007
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