Associated Papers
De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.
Garrido-Rodríguez P et al.
Haematologica, 2026
Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.
Garrido-Rodríguez P et al.
Plos One, 2024
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Cifuentes R et al.
International Journal of Molecular Sciences, 2023
36902454 (PubMed )
Supplement: ijms-24-05023-s001.zip › ijms-2244324-supplementary.pdf
Incidence and features of thrombosis in children with inherited antithrombin deficiency.
de la Morena-Barrio B et al.
Haematologica, 2019
Defects of splicing in antithrombin deficiency.
de la Morena-Barrio ME et al.
Research and Practice in Thrombosis and Haemostasis, 2017
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
Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family.
Deng H et al.
Journal of Thrombosis and Thrombolysis, 2013
Antithrombin deficiency in three Japanese families: one novel and two reported point mutations in the antithrombin gene.
Maruyama K et al.
Thrombosis Research, 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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