Article
A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis.
Blood - 1 Jul 2006
Corral Javier, González-Conejero Rocio, Soria Jose Manuel, González-Porras Jose Ramón, Pérez-Ceballos Elena, Lecumberri Ramón, Roldán Vanessa, Souto Juan Carlos, Miñano Antonia, Hernández-Espinosa David, Alberca Ignacio, Fontcuberta Jordi, Vicente Vicente
Abstract excerpt
The protein Z-dependent protease inhibitor (ZPI) is a hemostatic serpin with anticoagulant activity. As for antithrombin, deficiency of ZPI could have relevant thrombotic consequences. We have studied 6 genetic modifications affecting the ZPI gene, identifying 5 haplotypes. Haplotype H5 is featured by a stop codon at position 67. The relevance of these genetic modifications and haplotypes in venous thrombosis was...
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