Heterogeneity of Activated Protein C Resistance Phenotype in Subjects with Compound Heterozygosity for HR2 Haplotype and FV Leiden Mutation (R506Q) in Factor V Gene

• References

• 1 Lunghi B, Iacoviello L, Gemmati D, Dilasio MG, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Marchetti G, Bernardi F. Detection of new polymorphic markers in the factor V gene: association with FV levels in plasma. Thromb Haemost 1996; 75: 45-8.
• 2 Bernardi F, Faioni EM, Castoldi E, Lunghi B, Castaman G, Sacchi E, Mannucci PM. A factor V genetic component differing form FV R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90: 1552-7.
• 3 Rodeghiero F, Tosetto A. Activated protein C resistance and FV Leiden mutation are independent risk factors for venous thromboembolism. Ann Intern Med 1999; 130: 643-50.
• 4 Alhenc-Gelas M, Nicaud V, Gandrille S, van Dreden P, Amiral J, Aubry ML, Fiessinger JN, Emmerich J, Aiach M. The factor V gene A4070G mutation and the risk of venous thrombosis. Thromb Haemost 1999; 81: 193-7.
• 5 Faioni EM, Franchi F, Bucciarelli P, Margaglione M, De Stefano V, Castaman G, Finazzi G, Mannucci PMM. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). Blood 1999; 94: 3062-6.
• 6 Castaman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and Hisl299Arg substitutions in factor V. Br J Haematol 1997; 99: 257-61.
• 7 Rodeghiero F, Tosetto A. The epidemiology of inherited thrombophilia: The VITA project. Thromb Haemost 1997; 78: 636-40.