Associated Papers
Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations.
Kállai J et al.
International Journal of Molecular Sciences, 2024
Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution.
Marco-Rico A et al.
Journal of Blood Medicine, 2023
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C et al.
Jci Insight, 2022
Congenital antithrombin deficiency in patients with splanchnic vein thrombosis.
Baiges A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Incidence and features of thrombosis in children with inherited antithrombin deficiency.
de la Morena-Barrio B et al.
Haematologica, 2019
Mutation in a highly conserved glycine residue in strand 5B of plasminogen activator inhibitor 1 causes polymerisation.
Iwaki T et al.
Thrombosis and Haemostasis, 2017
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
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