Article
Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring.
Clinical genetics - 1 Jan 2005
Dodelson de Kremer R, Grosso C
Abstract excerpt
A frequent polymorphism in the gene coding for 5,10-methylenetetrahydrofolate reductase is the substitution 677C > T which produces a thermolabile and inefficient enzyme. Homozygosity for the 677C > T allele is the most important determinant of hyperhomocys-teinemia, when folic acid intake is reduced. Most studies on the relationship between the 677C > T variant in the mother and defects in the offspring have...
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