Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects
β Scribed by Andrea L.A Cunha; Mario H Hirata; Chong A Kim; Elvira M Guerra-Shinohara; Kymio Nonoyama; Rosario D.C Hirata
- Book ID
- 117074534
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 128 KB
- Volume
- 318
- Category
- Article
- ISSN
- 0009-8981
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π SIMILAR VOLUMES
A number of studies have demonstrated that the common polymorphism 677CβT in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent
## Abstract ## BACKGROUND: Methylenetetrahydrofolate reductase (__MTHFR__) of the folate metabolism pathway is a candidate gene for neural tube defects (NTDs). Frequency of the second common polymorphism, A1298C, in the __MTHFR__ gene is not well known in Mexico. Conflicting results exist regardin