Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Download PDF
Thromb Haemost 2006; 95(03): 581-583
DOI: 10.1160/TH05-11-0740
DOI: 10.1160/TH05-11-0740
Case Report
Factor V Cambridge mutation and activated protein C resistance assays
Authors
Further Information
Publication History
Received
15 November 2005
Accepted after revision
25 January 2006
Publication Date:
29 November 2017 (online)
-
References
- 1 Dahlback 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: 1004-8.
- 2 Bertina RM, Koeleman BP, Koster T. et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
- 3 Chitolie A, Lawrie AS, Mackie IJ. et al. The impact of oral anticoagulant therapy, factor VIII level and quality of factor V-deficient plasma on three commercial methods for activated protein C resistance. Blood Coagul Fibrinolysis 2001; 12: 179-86.
- 4 Vasse M, Leduc O, Borg JY. et al. Resistance to activated protein C: evaluation of three functional assays. Thromb Res 1994; 76: 47-59.
- 5 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.
- 6 Williamson D, Brown K, Luddington R. et al. FactorV Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C. Blood 1998; 91: 1140-4.
- 7 Chan WP, Lee CK, Kwong YL. et al. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 1998; 91: 1135-9.
- 8 Le Cam-Duchez V, Gandrille S, Tregouet D. et al. Influence of three potential genetic risk factors for thrombosis in 43 families carrying the factor V Arg 506 to Gln mutation. Br J Haematol 1999; 106: 889-97.
- 9 Bernardi F, Faioni EM, Castoldi E. et al. A factor V genetic component differing from factor V R506Q contributes to the activated proteinC resistance phenotype. Blood 1997; 90: 1552-7.
- 10 Santacroce R, Bossone A, Brancaccio V. et al. In the presence of other inherited or acquired highrisk situations, the FV Cambridge mutation may be an additional thrombophilic risk factor, through its effect on APC sensitivity. Thromb Haemost 2000; 83: 963-4.
- 11 ten Cate AJ, van de Hoek YT, Reitsma PH. et al. Mutation screening for thrombophilia: two cases with factor V Cambridge without activated protein C resistance. Thromb Haemost 2002; 87: 919-20.
- 12 Santamaria A, Soria JM, Tirado I. et al. Double heterozygosity for Factor V Leiden and Factor V Cambridge mutations associated with low levels of activated protein C resistance in a Spanish thrombophilic family. Thromb Haemost 2005; 93: 1193-5.
- 13 Le Cam-Duchez V, Frétigny M, Chrétien M-H. et al. Influence of coagulant factor V and factor VIII plasma levels and factor V A4070G polymorphism (FVHR2) on modified activated protein C resistance (APC-R) tests [abstract]. Thromb Haemost 2001; (Suppl XVIII ISTH Congress): P1489.
- 14 Castaman G, Tosetto A, Simioni M. et al. Phenotypic APC resistance in carriers of the A20210 prothrombin mutation is associated with an increased risk of venous thrombosis. Thromb Haemost 2001; 86: 804-8.