Associated Papers
Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene.
Wei X et al.
Thrombosis Journal, 2025
Identification of two point mutations associated with inherited antithrombin deficiency.
Lai SW et al.
Thrombosis Journal, 2024
Antithrombin III deficiency in Indian patients with deep vein thrombosis: identification of first India based AT variants including a novel point mutation (T280A) that leads to aggregation.
Bhakuni T et al.
Plos One, 2015
Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family.
Deng H et al.
Journal of Thrombosis and Thrombolysis, 2013
[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].
Deng HY et al.
Zhonghua Yi Xue Za Zhi, 2013
Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological relevance.
Martínez-Martínez I et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis.
Corral J et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia.
Tarantino MD et al.
American Journal of Hematology, 1999
Molecular genetics of human antithrombin deficiency.
Perry DJ et al.
Human Mutation, 1996
Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation.
Jochmans K et al.
Blood, 1994
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