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Thermolabile methylenetetrahydrofolate reductase (C677T): frequency in the Irish population


Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
225 KB
Volume
170
Category
Article
ISSN
1863-4362

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Methylenetetrahydrofolate reductase (MTH
✍ Rady, Peter L.; Tyring, Stephen K.; Hudnall, S. David; Vargas, Trini; Kellner, L πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 36 KB πŸ‘ 2 views

The polymorphic mutation C677T in the gene of MTHFR is considered a risk mutation for spina bifida and vascular disease. Another common mutation on the MTHFR gene, A1298C, has also been described as another risk mutation. We studied the frequencies of these two mutations on DNA samples from healthy

The thermolabile variant 677C→T can furt
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Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a carbon donor for homocysteine remethylation to methionine. Severe MTHFR deficiency is associated with hyperhomocysteinemia and homocystinuria. These patients show a wi