A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop)

Author:

Langdown Jonathan1,Luddington Roger J.1,Huntington James A.2,Baglin Trevor P.1ORCID

Affiliation:

1. Cambridge Haemophilia and Thrombophilia Centre, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, United Kingdom; and

2. University of Cambridge, Department of Haematology, Cambridge Institute for Medical Research, Cambridge, United Kingdom

Abstract

Key Points A novel TM mutation results in shedding of active TM into the blood. Subsequent activation of the protein C anticoagulant system causes bleeding.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference24 articles.

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3. Thrombomodulin: a bifunctional modulator of inflammation and coagulation in sepsis [published online ahead of print February 28, 2012].;Okamoto,2012

4. The central role of thrombin in hemostasis.;Crawley;J Thromb Haemost,2007

5. Thrombin-cofactor interactions: structural insights into regulatory mechanisms.;Adams;Arterioscler Thromb Vasc Biol,2006

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