• 1
    Bertina, R., Koeleman, B., Koster, T., Rosendaal, F., Dirven, R., De Ronde, H., Van Der Velden, P. & Reitsma, P. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature, 369, 6467.
  • 2
    Brown, K., Luddington, R. & Baglin, T. (1998) Effect of the MTHFR C677T variant on the risk of venous thromboembolism: interaction with factor V Leiden and prothrombin (F2G20210A) mutations. British Journal of Haematology, 103, 4244.
  • 3
    Boers, G.H.J. (1997) Hyperhomocysteinaemia as a risk factor for arterial and venous disease: a review of evidence and relevance. Thrombosis and Haemostasis, 78, 520522.
  • 4
    Flechter, O. & Kessling, A.M. (1998) MTHFR association with arteriosclerotic vascular disease? Human Genetics, 103, 1121.DOI: 10.1007/s004390050776
  • 5
    Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J.H., Den Heijer, M., Kluijtmans, L.A.J., Van Den Heuvel, L.P. & Rozen, R. (1995) A candidate risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics, 10, 111113.DOI: 10.1038/ng0595-111
  • 6
    Kluijtmans, L.A.J., Den Heijer, M., Reitsma, P.H., Heil, S.G., Blom, H.J. & Rosendaal, F.R. (1998) Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis. Thrombosis and Haemostasis, 79, 254258.
  • 7
    Miller, S.A., Dykes, D.D. & Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 12151218.
  • 8
    Poort, S.W., Rosendaal, F.R., Reitsma, P.H. & Bertina, R.M. (1996) 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, 88, 36983703.
  • 9
    Rozen, R. (1997) Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thrombosis and Haemostasis, 78, 523526.
  • 10
    Seligsohn, U. & Zivelin, A. (1997) Thrombophilia as a multigenic disorder. Thrombosis and Haemostasis, 78, 297301.
  • 11
    Van Der Put, N.M.J., Gabreëls, F., Stevens, E.M.B., Smeitink, J.A.M., Trijbels, F.J.M., Eskes, T.K.A.B., Van Den Heuvel, L.P. & Blom, H.J. (1998) A second mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? American Journal of Human Genetics, 62, 10441051.DOI: 10.1086/301825
  • 12
    Weisberg, I., Tran, P., Christensen, B., Sibani, S. & Rozen, R. (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Molecular Genetics and Metabolism, 64, 169172.DOI: 10.1006/mgme.1998.2714