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Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosis

22 Jan 2025

Abstract excerpt

ABSTRACT: Thrombomodulin (TM) expressed on endothelial cells regulates coagulation. Specific nonsense variants in the TM gene, THBD, result in high soluble TM levels causing rare bleeding disorders. In contrast, although THBD variants have been associated with venous thromboembolism, this association remains controversial. A multigene panel was used to diagnose 601 patients with inherited bleeding or thrombotic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39841007
DOI: 10.1182/blood.2024026454

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