Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia-Reference-Cited by-同舟云学术

Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia

Published:2021-11-24 Issue:2 Volume:97 Page:216-225
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:American J Hematol

Author:

Bravo‐Pérez Carlos¹^ORCID,Morena‐Barrio María Eugenia¹^ORCID,Morena‐Barrio Belén¹^ORCID,Miñano Antonia¹,Padilla José¹,Cifuentes Rosa¹,Garrido Pedro¹,Vicente Vicente¹^ORCID,Corral Javier¹^ORCID

Affiliation:

1. Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, IMIB, CIBERER Universidad de Murcia Murcia Spain

Funder

Seneca Foundation

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.26413

Reference31 articles.

1. Molecular mechanisms of antithrombin‐heparin regulation of blood clotting proteinases. A paradigm for understanding proteinase regulation by serpin family protein proteinase inhibitors;Hartnett ME;Biochimie,2010

2. Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH

3. The genetics of antithrombin

4. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of aSERPINC1gene defect

5. Journal of Thrombosis and Haemostasis 10 9

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1. Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report;Thrombosis Journal;2023-12-13

2. Antithrombin Therapy: Current State and Future Outlook;Clinical and Applied Thrombosis/Hemostasis;2023-01

3. Homozygous SERPINC1 Mutation in Congenital Antithrombin Deficiency: A Unique First Case of Neonatal Cardiac Thrombosis;Perinatology;2023

4. Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect;JCI Insight;2022-10-10

5. Missense mutation of SERPINC1 (p.Ser426Leu) in a young patient presenting as refractory and recurrent venous thromboembolism: A case report;Frontiers in Cardiovascular Medicine;2022-08-24