메뉴 건너뛰기




Volumn 43, Issue 9, 1997, Pages 1678-1683

Factor V Leiden and other coagulation factor mutations affecting thrombotic risk

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

EID: 0030870825     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.9.1678     Document Type: Conference Paper
Times cited : (145)

References (42)
  • 1
    • 0013844775 scopus 로고
    • A new inherited coagulation disorder caused by abnormal fibrinogen (fibrinogen Baltimore)
    • Beck EA, Charache P, Jackson DP. A new inherited coagulation disorder caused by abnormal fibrinogen (fibrinogen Baltimore). Nature 1965;208:143-5.
    • (1965) Nature , vol.208 , pp. 143-145
    • Beck, E.A.1    Charache, P.2    Jackson, D.P.3
  • 2
    • 0028877613 scopus 로고
    • Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen
    • Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen. Thromb Haemost 1995;73:151-61.
    • (1995) Thromb Haemost , vol.73 , pp. 151-161
    • Haverkate, F.1    Samama, M.2
  • 3
    • 0001627642 scopus 로고
    • Inherited antithrombin III deficiency causing thrombophilia
    • Egeberg O. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diath Haembrrh 1967;13:516-30.
    • (1967) Thromb Diath Haembrrh , vol.13 , pp. 516-530
    • Egeberg, O.1
  • 4
    • 0019579602 scopus 로고
    • Antithrombin III deficiency and thromboembolism
    • Thaler E, Lechner K. Antithrombin III deficiency and thromboembolism. Clin Haematol 1981;10:369-90.
    • (1981) Clin Haematol , vol.10 , pp. 369-390
    • Thaler, E.1    Lechner, K.2
  • 9
    • 0024603102 scopus 로고
    • Diagnosis and treatment of homozygous protein C deficiency
    • Marlar RA, Montgomery R, Broekmans AW. Diagnosis and treatment of homozygous protein C deficiency. J Pediatr 1989;114: 528-34.
    • (1989) J Pediatr , vol.114 , pp. 528-534
    • Marlar, R.A.1    Montgomery, R.2    Broekmans, A.W.3
  • 11
    • 0021741550 scopus 로고
    • Familial protein S deficiency is associated with recurrent thrombosis
    • Comp PC, Nixon RR, Cooper MR, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984;74:2082-8.
    • (1984) J Clin Invest , vol.74 , pp. 2082-2088
    • Comp, P.C.1    Nixon, R.R.2    Cooper, M.R.3    Esmon, C.T.4
  • 13
    • 0029125979 scopus 로고
    • A review of mutations causing deficiencies of antithrombin, protein C and protein S
    • Aiach M, Gandrille S, Emmerich J. A review of mutations causing deficiencies of antithrombin, protein C and protein S. Thromb Haemost 1995;74:81-9.
    • (1995) Thromb Haemost , vol.74 , pp. 81-89
    • Aiach, M.1    Gandrille, S.2    Emmerich, J.3
  • 14
    • 0029033740 scopus 로고
    • Protein C deficiency in a controlled series of unselected outpatients: An infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study)
    • Koster T, Rosendaal FR, Briët E, van der Meer FJ, Colly LP, Trienekens PH, et al. Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study). Blood 1995; 85:2756-61.
    • (1995) Blood , vol.85 , pp. 2756-2761
    • Koster, T.1    Rosendaal, F.R.2    Briët, E.3    Van Der Meer, F.J.4    Colly, L.P.5    Trienekens, P.H.6
  • 16
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
    • Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-703.
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3    Bertina, R.M.4
  • 17
    • 0027234786 scopus 로고
    • Protein C activity in healthy volunteers-influence of age, sex, smoking and oral contraceptives
    • Tait RC, Walker ID, Islam SIAM, McCall F, Conkie JA, Wight M, et al. Protein C activity in healthy volunteers-influence of age, sex, smoking and oral contraceptives. Thromb Haemost 1993;70: 281-3.
    • (1993) Thromb Haemost , vol.70 , pp. 281-283
    • Tait, R.C.1    Walker, I.D.2    Islam, S.I.A.M.3    McCall, F.4    Conkie, J.A.5    Wight, M.6
  • 18
    • 0022929854 scopus 로고
    • Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein
    • Dahlbäck B. Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein. J Biol Chem 1986; 261:12022-7.
    • (1986) J Biol Chem , vol.261 , pp. 12022-12027
    • Dahlbäck, B.1
  • 19
    • 0029017118 scopus 로고
    • Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrates type I and type II deficiencies to be phenotypic variants of the same genetic disease
    • Zöller B, Garcio de Frutos B, Dahlbäck B. Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrates type I and type II deficiencies to be phenotypic variants of the same genetic disease. Blood 1995;85:3524-31.
    • (1995) Blood , vol.85 , pp. 3524-3531
    • Zöller, B.1    De Garcio Frutos, B.2    Dahlbäck, B.3
  • 20
    • 0027742936 scopus 로고
    • Resistance to activated protein C in nine thrombophilic families: Interference in a protein S functional assay
    • Faioni EM, Franchi F, Asti D, Sacchi E, Bernardi F, Mannucci PM. Resistance to activated protein C in nine thrombophilic families: interference in a protein S functional assay. Thromb Haemost 1993;70:1067-71.
    • (1993) Thromb Haemost , vol.70 , pp. 1067-1071
    • Faioni, E.M.1    Franchi, F.2    Asti, D.3    Sacchi, E.4    Bernardi, F.5    Mannucci, P.M.6
  • 21
    • 0029382461 scopus 로고
    • Influence of protein C resistance (APC-R) on the determination of protein C and S by functional clotting assays
    • Ortega IS, Pinto CR, Urgelles MF, Luengo JR. Influence of protein C resistance (APC-R) on the determination of protein C and S by functional clotting assays. Blood Coagul Fibrinolysis 1995;6: 683-7.
    • (1995) Blood Coagul Fibrinolysis , vol.6 , pp. 683-687
    • Ortega, I.S.1    Pinto, C.R.2    Urgelles, M.F.3    Luengo, J.R.4
  • 22
    • 0027446268 scopus 로고
    • Familial thrombophilia due to a previous unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C
    • Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previous unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sei U S A 1993;90:1004-8.
    • (1993) Proc Natl Acad Sei U S A , vol.90 , pp. 1004-1008
    • Dahlbäck, B.1    Carlsson, M.2    Svensson, P.J.3
  • 23
    • 0027428481 scopus 로고
    • Anticoagulant protein C pathway defective in majority of thrombophilic patients
    • Griffin JH, Evatt B, Wideman G, Fernandez JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993;82:1989-93.
    • (1993) Blood , vol.82 , pp. 1989-1993
    • Griffin, J.H.1    Evatt, B.2    Wideman, G.3    Fernandez, J.A.4
  • 24
    • 0027520285 scopus 로고
    • Venous thrombosis due to poor anticoagulant response to activated C: Leiden Thrombophilia Study
    • Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated C: Leiden Thrombophilia Study. Lancet 1993; 342:1503-6.
    • (1993) Lancet , vol.342 , pp. 1503-1506
    • Koster, T.1    Rosendaal, F.R.2    De Ronde, H.3    Briët, E.4    Vandenbroucke, J.P.5    Bertina, R.M.6
  • 25
    • 0029080341 scopus 로고
    • Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis
    • Bertina RM, Reitsma PH, Rosendaal FR, Vandenbroucke JP. Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thromb Haemost 1995;74:449-53.
    • (1995) Thromb Haemost , vol.74 , pp. 449-453
    • Bertina, R.M.1    Reitsma, P.H.2    Rosendaal, F.R.3    Vandenbroucke, J.P.4
  • 26
    • 0028939318 scopus 로고
    • Characterization of the molecular defect in factor V R506Q
    • Kalafatis M, Bertina RM, Rand MD, Mann KG. Characterization of the molecular defect in factor V R506Q. J Biol Chem 1995;270: 4053-7.
    • (1995) J Biol Chem , vol.270 , pp. 4053-4057
    • Kalafatis, M.1    Bertina, R.M.2    Rand, M.D.3    Mann, K.G.4
  • 27
    • 0029133654 scopus 로고
    • Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor Va R506Q by activated protein C
    • Nicolaes GAF, Tans G, Thomassen MCLGD, Hemker HC, Pabinger I, Varadi K, et al. Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor Va R506Q by activated protein C. J Biol Chem 1995;270:21158-66.
    • (1995) J Biol Chem , vol.270 , pp. 21158-21166
    • Nicolaes, G.A.F.1    Tans, G.2    Thomassen, M.C.L.G.D.3    Hemker, H.C.4    Pabinger, I.5    Varadi, K.6
  • 28
    • 0028810738 scopus 로고
    • World distribution of factor V Leiden
    • Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133-4.
    • (1995) Lancet , vol.346 , pp. 1133-1134
    • Rees, D.C.1    Cox, M.2    Clegg, J.B.3
  • 29
    • 0031023757 scopus 로고    scopus 로고
    • A single genetic origin for a common Caucasian risk factor for venous thrombosis
    • Griffin JH, Xu X, Pabinger I, Samama M, Conard J, Brenner B, et al. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 1997;89:397-402.
    • (1997) Blood , vol.89 , pp. 397-402
    • Griffin, J.H.1    Xu, X.2    Pabinger, I.3    Samama, M.4    Conard, J.5    Brenner, B.6
  • 30
    • 0028931717 scopus 로고
    • High risk of thrombosis in patients homozygous for factor V Leiden (APC resistance)
    • Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (APC resistance). Blood 1995;85:1505-8.
    • (1995) Blood , vol.85 , pp. 1505-1508
    • Rosendaal, F.R.1    Koster, T.2    Vandenbroucke, J.P.3    Reitsma, P.H.4
  • 32
    • 0028000665 scopus 로고
    • Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families
    • Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families. Blood 1994;84:1031-5.
    • (1994) Blood , vol.84 , pp. 1031-1035
    • Koeleman, B.P.C.1    Reitsma, P.H.2    Allaart, C.F.3    Bertina, R.M.4
  • 33
    • 0029016883 scopus 로고
    • Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S
    • Zöller B, Berntsdoller A, Garcia de Frutos P, Dahlbäck B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995;85:3518-23.
    • (1995) Blood , vol.85 , pp. 3518-3523
    • Zöller, B.1    Berntsdoller, A.2    De Garcia Frutos, P.3    Dahlbäck, B.4
  • 35
    • 0028651903 scopus 로고
    • Laboratory diagnosis of APC-resistance: A critical evaluation of the test and the development of diagnostic criteria
    • 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;72:880-6.
    • (1994) Thromb Haemost , vol.72 , pp. 880-886
    • De Ronde, H.1    Bertina, R.M.2
  • 36
    • 0030615077 scopus 로고    scopus 로고
    • Screening for the FV: Q506 mutation-evaluation of thirteen plasma-based methods for their diagnostic efficacy in comparison with DNA analysis
    • Tripodi A, Negri B, Bertina RM, Mannucci PM. Screening for the FV: Q506 mutation-evaluation of thirteen plasma-based methods for their diagnostic efficacy in comparison with DNA analysis. Thromb Haemost 1997;77:436-9.
    • (1997) Thromb Haemost , vol.77 , pp. 436-439
    • Tripodi, A.1    Negri, B.2    Bertina, R.M.3    Mannucci, P.M.4
  • 37
    • 0029951942 scopus 로고    scopus 로고
    • Activated protein C resistance: A comparison between two clotting assays and their relationship to the presence of the factor V Leiden mutation
    • Legnani C, Palareti G, Biagi R, Coccheri S, Bernardi F, Rosendaal FR, et al. Activated protein C resistance: a comparison between two clotting assays and their relationship to the presence of the factor V Leiden mutation. Br J Haematol 1996;93:694-9.
    • (1996) Br J Haematol , vol.93 , pp. 694-699
    • Legnani, C.1    Palareti, G.2    Biagi, R.3    Coccheri, S.4    Bernardi, F.5    Rosendaal, F.R.6
  • 38
    • 0029892916 scopus 로고    scopus 로고
    • A modification of the APC-resistance test and its application to the study of patients on coumarin therapy
    • Jorguera JI, Aznar J, Femandez MA, Montoro JM, Curats R, Casaña P. A modification of the APC-resistance test and its application to the study of patients on coumarin therapy. Thromb Res 1996;82: 217-24.
    • (1996) Thromb Res , vol.82 , pp. 217-224
    • Jorguera, J.I.1    Aznar, J.2    Femandez, M.A.3    Montoro, J.M.4    Curats, R.5    Casaña, P.6
  • 39
  • 42
    • 0029993889 scopus 로고    scopus 로고
    • Evaluation of a tissue factor V assay to detect factor V Leiden: Demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance
    • Liebman HA, Sutherland D, Bacon R, McGehee W. Evaluation of a tissue factor V assay to detect factor V Leiden: demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance. Br J Haematol 1996;95:550-3.
    • (1996) Br J Haematol , vol.95 , pp. 550-553
    • Liebman, H.A.1    Sutherland, D.2    Bacon, R.3    McGehee, W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.