Article
5, 10-Methylenetetrahydrofolate reductase (MTHFR) 677 C --> T genetic polymorphism in 228 Croatian volunteers.
Collegium antropologicum - 1 Dec 2004
Lovricević Ivo, Franjić Björn Dario, Tomicić Maja, Vrkić Nada, De Syo Drago, Hudorović Narcis, Sonicki Zdenko, Loncar Robert
Abstract excerpt
5, 10-Methylenetetrahydrofolate Reductase (MTHFR) is one of the key enzymes in the metabolism of homocysteine, where it catalyses its remethylation. The autosomal recessive bp 677 C --> T mutation in the MTHFR gene leads to the substitution of valine for alanine. Individuals who are homozygous for this C677T mutation exhibit a decreased specific activity and increased thermolability of this enzyme. This leads to...
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