Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect-Reference-Cited by-同舟云学术

Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

Published:2023-04-06 Issue:10 Volume:108 Page:2803-2807
ISSN:1592-8721
Container-title:Haematologica
language:
Short-container-title:haematol

Author:

Weronska Anna,De la Morena-Barrio Belen,Goldman-Mazur Sarah,De la Morena-Barrio Maria Eugenia,Padilla José,Miñano Antonia,Garrido Pedro,Treliński Jacek,Potaczek Daniel Piotr,Szczepanek Anita,Undas Anetta,Corral Javier,Wypasek Ewa

Publisher

Ferrata Storti Foundation (Haematologica)

Subject

Hematology

Reference19 articles.

1. Corral J, de la Morena-Barrio ME, Vicente V. The genetics of antithrombin. Thromb Res. 2018; 169:23-29.

2. Van Cott EM, Orlando C, Moore GW, Cooper PC, Meijer P, Marlar R. Subcommittee on Plasma Coagulation Inhibitors. Recommendations for clinical laboratory testing for antithrombin deficiency; communication from the SSC of the ISTH. J Thromb Haemost. 2020; 18(1):17-22.

3. Refaei M, Xing L, Lim W, Crowther M, Boonyawat K. Management of venous thromboembolism in patients with hereditary antithrombin deficiency and pregnancy: case report and review of the literature. Case Rep Hematol. 2017; 2017:9261351.

4. Croles FN, Borjas-Howard J, Nasserinejad K, Leebeek FWG, Meijer K. Risk of venous thrombosis in antithrombin deficiency: a systematic review and Bayesian meta-analysis. Semin Thromb Hemost. 2018; 44(4):315-326.

5. Luxembourg B, Delev D, Geisen C. Molecular basis of antithrombin deficiency. Thromb Haemost. 2011; 105(4):635-646.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population;International Journal of Molecular Sciences;2024-08-28

2. Next-generation sequencing strategies in venous thromboembolism: in whom and for what purpose?;Journal of Thrombosis and Haemostasis;2024-07

3. Thrombophilia Screening: Not So Straightforward;Seminars in Thrombosis and Hemostasis;2024-05-11