Article
Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring.
Journal of molecular medicine (Berlin, Germany) - 1 Nov 1996
van der Put N M, van den Heuvel L P, Steegers-Theunissen R P, Trijbels F J, Eskes T K, Mariman E C, den Heyer M, Blom H J
Abstract excerpt
Periconceptional folate intake reduces both the occurrence and recurrence risk of neural tube defects. Plasma homocysteine levels can be elevated in mothers of a child with a neural tube defect, suggesting a dysfunctional folate metabolism. Very recently we showed that a common 677C-->T mutation in the 5,10-methylene tetrahydrofolate reductase gene, causing thermolability of the enzyme, is a risk factor for spina...
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