A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity
Tóm tắt
Từ khóa
Tài liệu tham khảo
Rozen, 1996, Molecular genetics of methylenetetrahydrofolate reductase deficiency, J Inher Metab Dis, 19, 589, 10.1007/BF01799831
Frosst, 1995, A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase, Nat Genet, 10, 111, 10.1038/ng0595-111
van der Put, 1995, Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida, Lancet, 346, 1070, 10.1016/S0140-6736(95)91743-8
Whitehead, 1995, A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects, Q J Med, 88, 63
Viel, 1997, Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas, Br J Cancer, 75, 1105, 10.1038/bjc.1997.191
Christensen, 1997, Correlation of a common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene with plasma homocysteine in patients with premature coronary artery disease, Arterioscler Thromb Vasc Biol, 17, 569, 10.1161/01.ATV.17.3.569
Christensen, B, Arbour, L, Tran, P, Leclerc, D, Sabbaghian, N, Platt, R, Gilfix, B, M, Rosenblatt, D, S, Gravel, R, A, Forbes, P, Rozen, R, Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
Goyette, 1995, Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe MTHFR deficiency, Am J Hum Genet, 56, 1052