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Variability of Thrombosis among Homozygous Siblings with Resistance to Activated Protein C Due to an Arg-to-Gln Mutation in the Gene for Factor V

Variability of Thrombosis among Homozygous Siblings with Resistance to Activated Protein C Due to... The most frequent laboratory abnormality in patients with idiopathic deep-vein thrombosis is resistance to activated protein C1. Depending on the selection criteria, in vitro resistance to activated protein C can be identified in 20 to 50 percent of patients2–6. Protein C, a key element in the regulation of coagulation, circulates in plasma as an inactive precursor. On contact with thrombin bound to the thrombomodulin receptors on vascular endothelial cells, protein C rapidly becomes activated. Activated protein C enzymatically lyses two cofactors of the coagulation cascade, factor VIIIa and factor Va. It is thus a natural anticoagulant that . . . http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png The New England Journal of Medicine The New England Journal of Medicine

Variability of Thrombosis among Homozygous Siblings with Resistance to Activated Protein C Due to an Arg-to-Gln Mutation in the Gene for Factor V

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References (24)

Publisher
The New England Journal of Medicine
Copyright
Copyright © 1994 Massachusetts Medical Society. All rights reserved.
ISSN
0028-4793
eISSN
1533-4406
DOI
10.1056/NEJM199412083312305
pmid
7969326
Publisher site
See Article on Publisher Site

Abstract

The most frequent laboratory abnormality in patients with idiopathic deep-vein thrombosis is resistance to activated protein C1. Depending on the selection criteria, in vitro resistance to activated protein C can be identified in 20 to 50 percent of patients2–6. Protein C, a key element in the regulation of coagulation, circulates in plasma as an inactive precursor. On contact with thrombin bound to the thrombomodulin receptors on vascular endothelial cells, protein C rapidly becomes activated. Activated protein C enzymatically lyses two cofactors of the coagulation cascade, factor VIIIa and factor Va. It is thus a natural anticoagulant that . . .

Journal

The New England Journal of MedicineThe New England Journal of Medicine

Published: Dec 8, 1994

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