Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

A Quantitative Assessment of Plasma Homocysteine as a Risk Factor for Vascular Disease

1995 • 3,645 citations

Relation Between Folate Status, a Common Mutation in Methylenetetrahydrofolate Reductase, and Plasma Homocysteine Concentrations

1996 • 1,423 citations

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1995 • 870 citations

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

1996 • 670 citations

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

1991 • 615 citations

A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects

1995 • 314 citations

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

1995 • 263 citations

Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations.

1991 • 128 citations

Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis.

1984 • 61 citations

Photoaffinity labeling of methylenetetrahydrofolate reductase with 8-azido-S-adenosylmethionine.

1986 • 60 citations

Methylenetetrahydrofolate Reductase in Cultured Human Cells. II. Genetic and Biochemical Studies of Methylenetetrahydrofolate Reductase Deficiency

1977 • 51 citations

Methylenetetrahydrofolate reductase (MR) deficiency: Thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts

1992 • 27 citations