According to Rogier Bertina, a professor of hematology at the University Hospital of Leiden in the Netherlands, this paper "provides the molecular [genetic] basis for APC resistance, a phenotype frequently observed in patients who have a tendency to develop venous thrombosis -- blood clots in their veins."
Bertina explains that "APC-activated protein C-is an important anticoagulant substance in the blood. Previously, it was shown that the anticoagulant effects of this protein were not fully seen in cases of APC resistance" (B. Dahlbck et al., Proceedings of the National Academy of Sciences, 90:1004-8, 1993).
In this paper, he adds, "we showed -- using biochemical, epidemiological, and genetic-linkage studies -- that a single point mutation in the gene for the blood coagulation protein factor V could explain the large majority of cases of APC resistance and that 20 percent of all patients with venous thrombosis, as well as 4 percent of the ...
