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A new thrombomodulin-related coagulopathy

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journal contribution
posted on 02.07.2021, 12:59 by Aisling RehillAisling Rehill, Roger PrestonRoger Preston
Individuals with bleeding disorders of unknown etiology exhibit bleeding diatheses of varying severity. Challenges persist in identifying the molecular basis of the bleeding experienced by many of these individuals; however, the advent and accessibility of advanced sequencing technologies has enabled the identification of deleterious mutations in a number of genes encoding proteins necessary for optimal hemostatic function.1 On occasion, the connection between genotype and bleeding is not immediately apparent, but further investigation can ultimately yield unexpected insights into the biology underlying key hemostasis pathways.

Funding

Science Foundation Ireland, Grant/Award Number: 15/CDA/3499

History

Comments

This is the peer reviewed version of the following article: Rehill AM, Preston RJS. A new thrombomodulin-related coagulopathy. J Thromb Haemost. 2020 18(9):2123-2125., which has been published in final form at https://doi.org/10.1111/jth.14987. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.

Published Citation

Rehill AM, Preston RJS. A new thrombomodulin-related coagulopathy. J Thromb Haemost. 2020 18(9):2123-2125.

Publication Date

31 August 2020

PubMed ID

32881335

Department/Unit

  • Irish Centre for Vascular Biology
  • School of Pharmacy and Biomolecular Sciences

Research Area

  • Vascular Biology
  • Health Professions Education

Publisher

Wiley

Version

  • Accepted Version (Postprint)