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References

  • 1
    Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 10048.
  • 2
    Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, De Ronde H, Van Der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 647.
  • 3
    Kalafatis M, Bertina RM, Rand MD, Mann KG. Characterization of the molecular defect in factor VR506Q. J Biol Chem 1995; 270: 40537.
  • 4
    Nicolaes GA, Tans G, Thomassen MC, Hemker HC, Pabinger I, Váradi K, Schwarz HP, Rosing J. Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor VaR506Q by activated protein C. J Biol Chem 1995; 270: 2115866.
  • 5
    Váradi K, Rosing J, Tans G, Pabinger I, Keil B, Schwarz HP. Factor V enhances the cofactor function of protein S in the APC-mediated inactivation of factor VIII: influence of the factor VR506Q mutation. Thromb Haemost 1996; 76: 20814.
  • 6
    Thorelli E, Kaufman RJ, Dahlbäck B. Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V. Blood 1999; 93: 25528.
  • 7
    Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 15048.
  • 8
    Simioni P, Scudeller A, Radossi P, Gavasso S, Girolami B, Tormene D, Girolami A. ‘‘Pseudo homozygous“ activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds. Thromb Haemost 1996; 75: 4226.
  • 9
    Castoldi E, Kalafatis M, Lunghi B, Simioni P, Ioannou PA, Petio M, Girolami A, Mann KG, Bernardi F. Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma. Thromb Haemost 1998; 80: 4036.
  • 10
    Kalafatis M, Bernardi F, Simioni P, Lunghi B, Girolami A, Mann KG. Phenotype and genotype expression in pseudohomozygous factor VLEIDEN: the need for phenotype analysis. Arterioscler Thromb Vasc Biol 1999; 19: 33642.
  • 11
    Zehnder JL, Jain M. Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. Blood Coagul Fibrinolysis 1996; 7: 3612.
  • 12
    Guasch JF, Lensen RP, Bertina RM. Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is ‘‘pseudo homozygous” for activated protein C resistance. Thromb Haemost 1997; 77: 2527.
  • 13
    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 His1299Arg substitutions in factor V. Br J Haematol 1997; 99: 25761.
  • 14
    Delahousse B, Iochmann S, Pouplard C, Fimbel B, Charbonnier B, Gruel Y. Pseudo-homozygous activated protein C resistance due to coinheritance of heterozygous factor V Leiden mutation and type I factor V deficiency. Variable expression when analyzed by different activated protein C resistance functional assays. Blood Coagul Fibrinolysis 1997; 8: 5039.
  • 15
    Lunghi B, Castoldi E, Mingozzi F, Bernardi F, Castaman G. A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject. Blood 1998; 92: 14634.
  • 16
    Standen G, Morse C, Aslam S, Bowron A. Recurrent thrombosis in a patient with pseudohomozygous activated protein C resistance and homozygosity for MTHFR gene polymorphism C677T. Thromb Haemost 1999; 81: 6634.
  • 17
    Castoldi E, Simioni P, Kalafatis M, Lunghi B, Tormene D, Girelli D, Girolami A, Bernardi F. Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. Blood 2000; 96: 14438.
  • 18
    Dargaud Y, Trzeciak MC, Meunier S, Angei C, Pellechia D, Negrier C, Vinciguerra C. Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy. Br J Haematol 2003; 123: 3425.
  • 19
    Castaman G, Tosetto A, Ruggeri M, Rodeghiero F. Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis. Br J Haematol 1999; 106: 2326.
  • 20
    Simioni P, Castoldi E, Lunghi B, Tormene D, Rosing J, Bernardi F. An underestimated combination of opposites resulting in enhanced thrombotic tendency. Blood 2005; 106: 23635.
  • 21
    Scanavini D, Girelli D, Lunghi B, Martinelli N, Legnani C, Pinotti M, Palareti G, Bernardi F. Modulation of factor V levels in plasma by polymorphisms in the C2 domain. Arterioscler Thromb Vasc Biol 2004; 24: 2006.
  • 22
    De Ronde H, Bertina RM. Laboratory diagnosis of APC-resistance: a critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost 1994; 72: 8806.
  • 23
    Castoldi E, Brugge JM, Nicolaes GA, Girelli D, Tans G, Rosing J. Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations. Blood 2004; 103: 41739.
  • 24
    Nicolaes GA, Thomassen MC, Tans G, Rosing J, Hemker HC. Effect of activated protein C on thrombin generation and on the thrombin potential in plasma of normal and APC-resistant individuals. Blood Coagul Fibrinolysis 1997; 8: 2838.
  • 25
    Nicolaes GA, Thomassen MC, Van Oerle R, Hamulyák K, Hemker HC, Tans G, Rosing J. A prothrombinase-based assay for detection of resistance to activated protein C. Thromb Haemost 1996; 76: 40410.
  • 26
    Váradi K, Moritz B, Lang H, Bauer K, Preston E, Peake I, Rivard GE, Keil B, Schwarz HP. A chromogenic assay for activated protein C resistance. Br J Haematol 1995; 90: 88491.
  • 27
    Koenen RR, Thomassen MC, Tans G, Rosing J, Hackeng TM. Effect of oral contraceptives on the anticoagulant activity of protein S in plasma. Thromb Haemost 2005; 93: 8539.
  • 28
    Castoldi E, Lunghi B, Mingozzi F, Muleo G, Redaelli R, Mariani G, Bernardi F. A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. Haematologica 2001; 86: 62933.
  • 29
    Olds R, Simioni P, Thompson E, Morgan T, Girolami A, Lane DA. Factor V Gly2112Asp, a C2-domain variant, is associated with severe deficiency and bleeding tendency. J Thromb Haemost 2003; 1: P1206.
  • 30
    Lunghi B, Scanavini D, Castoldi E, Gemmati D, Tognazzo S, Redaelli R, Ghirarduzzi A, Ieran M, Pinotti M, Bernardi F. The factor V Glu1608Lys mutation is recurrent in familial thrombophilia. J Thromb Haemost 2005; 3: 20328.
  • 31
    De Visser MC, Van Hylckama Vlieg A, Tans G, Rosing J, Dahm AE, Sandset PM, Rosendaal FR, Bertina RM. Determinants of the APTT-based and ETP-based APC sensitivity tests. J Thromb Haemost 2005; 3: 148894.
  • 32
    Govers-Riemslag JW, Castoldi E, Nicolaes GA, Tans G, Rosing J. Reduced factor V concentration and altered FV1/FV2 ratio do not fully explain R2-associated APC-resistance. Thromb Haemost 2002; 88: 4449.
  • 33
    De Visser MC, Rosendaal FR, Bertina RM. A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis. Blood 1999; 93: 12716.
  • 34
    Rodeghiero F, Tosetto A. Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism. Ann Intern Med 1999; 130: 64350.