Absence of mutations at the activated protein C cleavage sites of factor VIII in 125 patients with venous thrombosis

British Journal of Haematology

Volumn 92, Issue 3, 1996, Pages 740-743

  Roelse, Jeanet C ^a   Koopman, Maria M W ^b   Büller, Harry R ^b   Ten Cate, Jan W ^b   Montaruli, Barbara ^a   Van Mourik, Jan A ^a   Voorberg, Jan ^a  

^a CENTRAL LABORATORY   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

APC resistance; Factor VIII factor V; Venous thrombosis

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8;

ADULT; AGED; ARTICLE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; VEIN THROMBOSIS;

EID: 0029869374     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1996.349885.x     Document Type: Article

References (12)

1. Bertina, R.M., Koeleman, B.P.C., Koster, T., Rosendaal, F.R., Dirven, R.J., de Ronde, H., van der Velden, P.A. & Reitsma, P.H. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature, 369, 64-67.
2. Dahlbäck, B. & Carlsson, M. (1991) Factor VIII defect associated with familial thrombophilia. Thrombosis and Haemostasis, 65, 658A.
3. Dahlbäck, B., Carlsson, M. & Svensson, P.J. (1993) Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C. Proceedings of the National Academy of Sciences of the United States of America, 90, 1004-1008.
4. Dahlbäck, B. (1995) The protein C anticoagulant system: inherited defects as basis for venous thrombosis. Thrombosis Research, 77, 1-43.
5. Eaton, D., Rodriquez, H. & Vehar, G.A. (1986) Proteolytic processing of human factor VIII: correlation of specific cleavages by thrombin, factor Xa and activated protein C with activation and inactivation of factor VIII coagulant activity. Biochemistry, 25, 505-512.
6. Elder, B., Lakich, D. & Gitschier, J. (1993) Sequence of the murine factor Vm cDNA. Genomics, 16, 374-379.
7. Fay, P.J., Smudzin, T.H. & Walker, F.J. (1991) Activated protein C-catalyzed inactivation of human factor VIII and factor VIIIa: identification of cleavage sites and correlation of proteolysis with cofactor activity. Journal of Biological Chemistry, 266, 20139-20145.
8. O' Brien, D.P., Johnson, D., Byfield, P. & Tuddenham, E.G.D. (1992) Inactivation of factor VIII by factor IXa. Biochemistry, 31, 2805-2812.
9. Tuddenham, E.G.D., Schwaab, R., Seehafer, J., Millar, D.S., Gitschier, J., Higuchi, M., Bidichandani, S., Connor, J.M., Hoyer, L.W., Yoshioka, A., Peake, I.R., Olek, K., Kazazian, H.H., Lavergne, J.-M., Gianelli, F., Antonarakis, S.E. & Cooper, D.M. (1994) Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Research, 22, 3511-3533.
10. 506 of factor V. Lancet, 343, 1535-1536.
11. Youssoufian, H., Kazazian H.H., Jr, Phillip, D.G., Aronis, S., Tsiftis, G., Brown, V.A. & Antonarakis, S.E. (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature, 324, 380-382.
12. Zöller, B., Svensson, P.J., He, X. & Dahlbäck, B. (1994) Identification of the same factor V gene mutation in 47 out of 50 thrombosis prone families with inherited resistance to activated protein C. Journal of Clinical Investigation, 94, 2521-2524.