1Fodinger M,Horl WH,Sunder G.Molecular biology of 5,10-methylenetetrahydrofolate reductase[J].J Nephrology,2000,13(1):20-33.
2Rozen R,Genetic predisposition to hyperhomocysteinemia:deficiency of methylenetetrahydrofolate reductase (MTHFR)[J].Thromb Haemost,1997,78(4):523-526.
7Van der Put NMJ,Gabreels F,Stevens EMB,et al.A second common mutation in the methylene tetrahydrofolate reductase gene:an additional risk factor for neural tube defects[J].Am J Hum Genet,1998,62:1044-1051.
8De Marco P,Calevo MG,Moroni A,et al.Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population[J].J Hum Genet,2002,47(6):3 19-324.
9van der Put NM,van Seraaten HW,Trijbels FJ,et al.Folate.homocysteine and neural tube defects:an overview[J].Exp Biol Med,2001,226(4):243-270.
10James SJ,Pogribna M,Pogribny IP,et al.Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome[J].Am J Clin Nut,1999,70(4):495-501.
二级参考文献13
1MRC Vitamin Study Research Group.Prevention of neural tube defects: results of the medical research council vitamin study[J].Lancet,1991,338:131-137.
2Robert J B,Zhu L,David E,et al.Prevention of neural-tube defects with folic acid in China[J].The New England Journal of Medicine,1999,341(20):1485-1491.
3Hasenau S M,Covington C.Neural tube defects[J].MCN Am J Matern Child Nurs,2002,27(2):87-91.
4Whitehead A S,Gallager P,Mills J L,et al.A genetic defect in 5,10-methylenetetrahydrofolate reductase in neural tube defects[J].Am J Med Genet,1996,88(4):7-10.
5Van der Put N M J,Gabreels F,Stevens E M B,et al.A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects[J].Am J Hum Genet,1998,62: 1044-1051.
6Seil S G,Van der Put N M,Waas E T,et al.Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects [J]?Mol Genet Metab,2001,73(2):164-72.
7Bennett G D,Wlodarczyk B,Calvin J A,et al.Valproic acid-induced alterations in growth and neurotrophic factor gene expression in murine embryos[J].Reprod Toxicol,2000,14(1):1-11.
8Nilson A,Platt R,Wu Q,et al.A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida[J].Mole Genet Meta,1999,67:317-323.
9Brown C M, Dalpin M E, Stochwell P A, et al. Thetranslational termination signal database (TransTerm) now also includes initiation contexts[J].Nucleic Acid Res,1993,21:3119-3123.
10Barber R,Shalat S,Hendricks K,et al.Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas hispanic population[J].Mol Genet Metab,2000,70(1):45-52.
