Heterogeneity in World Distribution of the Thermolabile C677T Mutation in 5,10-Methylenetetrahydrofolate Reductase
β Scribed by G. Pepe; O. Camacho Vanegas; B. Giusti; T. Brunelli; R. Marcucci; M. Attanasio; O. Rickards; G.F. De Stefano; D. Prisco; G.F. Gensini; R. Abbate
- Book ID
- 117852540
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 444 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302015
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The common polymorphic transition 677C>T in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene causes a thermolabile enzyme variant. This variant is associated with moderate hyperhomocysteinemia, a risk factor for vascular disease and thrombophilia. Up to now, it remained unclear if the therm
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