Protein C deficiency: from gene defects to disease.
Genetic defects in the protein C pathway are associated with an increased risk for venous thrombosis. This review will focus on the nature of the defects in the protein C gene that underlie protein C deficiency and the relationship with thrombotic disease.
Reitsma
P H
PH
Laboratory for Experimental Internal Medicine, University of Amsterdam, The Netherlands. P.H.Reitsma@amc.uva.nl
D002384:Catalysis; D004815:Epidermal Growth Factor / Q000235:genetics; D009154:Mutation; D010455:Peptides / Q000235:genetics; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency; D011498:Protein Precursors / Q000235:genetics; D017434:Protein Structure, Tertiary; D013927:Thrombosis / Q000235:genetics*
D010455:Peptides; D011486:Protein C; D011498:Protein Precursors; D004815:Epidermal Growth Factor