High Frequency of the C677T Mutation in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Northern Italy

E Sacchi; L Tagliabue; F Duca; P M Mannucci

doi:10.1055/s-0038-1657664

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1997; 78(02): 963-964
DOI: 10.1055/s-0038-1657664

Letter to the Editor

Schattauer GmbH Stuttgart

High Frequency of the C677T Mutation in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Northern Italy

E Sacchi

A. Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Italy

,

L Tagliabue

A. Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Italy

,

F Duca

A. Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Italy

,

P M Mannucci

A. Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Italy

› Author Affiliations

Abstract

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References

References
1 Malinow MR. Homocysteine and arterial occlusive disease. J Int Med 1994; 236: 603-617
2 Falcon CR, Cattaneo M, Panzeri D, Martinelli I, Mannucci PM. High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. Arterioscler Thromb 1994; 14: 1080-1083
3 Kluijtmans LAJ, van denHeuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, van OostBA, den HeijerM, Trijbels FJM, Rozen R, Blom HJ. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58: 35-41
4 Frezzato M, Tosetto A, Rodeghiero F. Validation of a questionnaire for the diagnosis of venous thromboembolism. Br J Haematol 1994; 87: 79 (Letter)
5 Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den HeijerM, Kluijtmans LAJ, van denHeuvel LP, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics 1995; 10: 111-113
6 Wilcken DE, Wang XL, Sim AS, McCredie RM. Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. Arterioscler Thromb Vase Biol 1996; 16: 878-882
7 de FranchisR, Mancini FP, D’Angelo A, Sebastio G, Fermo I, De StefanoV, Margaglione M, Mazzola G, Di MinnoG, Andria G. Elevated total plasma homocysteine and 677C->T mutation of the 5,10-Methylenetetrahydrofolate reductase gene in thrombotic vascular disease. Am J Hum Genet 1996; 59: 262-264 (Letter)