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KIRKE, Peadar N; MILLS, James L; SCOTT, John M; MOLLOY, Anne M; BRODY, Lawrence C; O'LEARY, Valerie B; DALY, Leslie; MURRAY, Sharon; CONLEY, Mary; MAYNE, Philip D; SMITH, Owen
BMJ. British medical journal (International ed.), 06/2004, Letnik: 328, Številka: 7455Journal Article
Homozygosity for the T allele of the C677T polymorphism of the gene encoding the folate dependent enzyme 5,10-methylenetrahydrofolate reductase is a risk factor for neural tube defects. Both the homozygous and heterozygous genotypes are associated with lower tissue concentrations of folate, higher homocysteine concentrations, and lower enzyme activity than the wild type genotype; these effects are more marked in homozygotes.
