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Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.
Rozen R, Barton D, Du J, Hum DW, MacKenzie RE, Francke U. Rozen R, et al. Am J Hum Genet. 1989 Jun;44(6):781-6. Am J Hum Genet. 1989. PMID: 2786332 Free PMC article.
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.
van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ. van der Put NM, et al. Lancet. 1995 Oct 21;346(8982):1070-1. doi: 10.1016/s0140-6736(95)91743-8. Lancet. 1995. PMID: 7564788
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, den Heijer M, Trijbels FJ, Rozen R, Blom HJ. Kluijtmans LA, et al. Am J Hum Genet. 1996 Jan;58(1):35-41. Am J Hum Genet. 1996. PMID: 8554066 Free PMC article.
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