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
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME et al.
Blood, 2022
Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.
Orlando C et al.
Thrombosis and Haemostasis, 2021
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.
Navarro-Fernández J et al.
Oncotarget, 2018
Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.
Revilla N et al.
Scientific Reports, 2017
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