Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity

A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

N.M.J. van der Put, F. Gabreëls, E M Stevens et al. · The American Journal of Human Genetics · 1998 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity

Ilan Weisberg, Pamela V. Tran, Benedicte Christensen et al. · Molecular Genetics and Metabolism · 1998 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +11

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

Seok Seon Kang, Paul Wong, Armando Susmano et al. · PubMed · 1991 · 605 citations

Medicine, Cardiology, Genetics +16

Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase.

Seok Seon Kang, Jiemin Zhou, Paul Wong et al. · PubMed · 1988 · 598 citations

Life Sciences, Biochemistry, Genetics +14

The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia.

Rowena G. Matthews, Martha Ludwig, Brian Guenther et al. · Nature Structural Biology · 1999 · 419 citations

Life Sciences, Biochemistry, Molecular Biology +16