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A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?
The American Journal of Human Genetics · 1998 · Vol. 62(5) · pp. 1044–1051
N.M.J. van der Put(Radboud University Nijmegen)F. Gabreëls(Radboud University Nijmegen)E M Stevens(Radboud University Nijmegen)Jan Smeıtınk(Radboud University Nijmegen)Frans J.M. Trijbels(Radboud University Nijmegen)T.K.A.B. Eskes(Radboud University Nijmegen)Lambert P. van den Heuvel(Radboud University Nijmegen)Henk J. Blom✉(Radboud University Nijmegen)
Folate and B Vitamins ResearchEsophageal and GI PathologyMethylenetetrahydrofolate reductaseLoss of heterozygosityGeneticsHeterozygote advantageBiologyMutationCompound heterozygosityAlleleMolecular biologyGene
MeSH terms
AdenineAdultOxidoreductases Acting on CH-NH Group DonorsCytosineFemaleHomocysteineHumansMaleMiddle AgedNeural Tube DefectsPyridoxineVitamin B 12PrevalencePoint MutationMethylenetetrahydrofolate Reductase (NADPH2)
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References
Maternal hyperhomocysteinemia: A risk factor for neural-tube defects?
Metabolism · 1994 · 409 citations
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
Nature Genetics · 1995 · 5,697 citations
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