Genetics

First Mutation in the Thrombomodulin Gene Is Identified

Published in Blood Weekly, February 13th, 1995

Researchers identified the first mutation in the thrombomodulin (TM) gene in a 45-year-old Hispanic male.

TM is the anticoagulant endothelial cell membrane-bound protein cofactor in the thrombin-mediated activation of protein C (PC), and the PC system's anticoagulant and profibrinolytic functions are important in preventing a thromboembolic disease. Thromboembolic diseases develop in patients with PC, protein S or PC cofactor deficiency and/or dysfunction. The molecular abnormality in at least 20 to 30 percent of thrombophilic patients, however, cannot be identified by previously recognized defects.

Ann-Kristin Ohlin, University Hospital, Lund,...

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Source: Blood Weekly (1995-02-13)

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