Resistance to activate protein C, the Arg506 to Gln mutation in the factor V gene, and venous thrombosis. Functional tests and DNA-based assays, pros and cons.
D001483:Base Sequence; D004789:Enzyme Activation; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D005166:Factor V Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008969:Molecular Sequence Data; D010314:Partial Thromboplastin Time; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011486:Protein C / Q000032:analysis / Q000378:metabolism*; D011655:Pulmonary Embolism / Q000209:etiology; D012307:Risk Factors; D012680:Sensitivity and Specificity; D013924:Thrombophlebitis / Q000453:epidemiology / Q000209:etiology*
D011486:Protein C; D005165:Factor V