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Vkorc1 Mutations Detected In Patients Resistant To Vitamin K Antagonists Are Not All Associated With A Resistant Vkor Activity.

J Thromb Haemost.. 2012-10; 
A Hodroge, B Matagrin, C Moreau, I Foure, A Hammed. USC 1233 INRA-Vetagro Sup, Veterinary School of Lyon, 69280 Marcy l'Etoile, France.
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摘要

Background: The VKORC1 gene codes for the VKORC1 enzyme which is responsible for the reduction of vitamin K epoxide into vitamin K. VKORC1 enzyme is the target of vitamin K antagonists (VKA). Twenty-eight rare single mutations in the VKORC1 coding sequence have been reported from resistant patients receiving unusually high doses of VKA to achieve the therapeutic anticoagulation. Objectives: These mutations have been suggested as being responsible for the resistant phenotype while biochemical consequences of these mutations on the VKORC1 enzyme have not yet been evaluated. Therefore, the aim of this study was to investigate the causality of the VKORC1 mutations in the resistance phenotype. Methods: Wild type VKO... More

关键词

anticoagulant resistance; catalytic properties; mutation; Vitamin K antagonists; VKORC1