A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations.

@article{Friedman1999ACM,
  title={A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations.},
  author={Gary Friedman and Neta Goldschmidt and Yechiel Friedlander and Arie Ben-Yehuda and Jacob S Selhub and S Babaey and Manor Mendel and Miriam Kidron and H Bar-on},
  journal={The Journal of nutrition},
  year={1999},
  volume={129 9},
  pages={1656-61}
}
Methylenetetrahydrofolate reductase (MTHFR) is one of the main regulatory enzymes of homocysteine metabolism. Previous studies revealed that a common mutation in MTHFR gene C677T is related to hyperhomocysteinemia and occlusive vascular pathology. In the current study, we determined the prevalence of a newly described mutation in the human MTHFR gene A1298C, and the already known C677T mutation, and related them to plasma total homocysteine and folate concentrations. We studied 377 Jewish… CONTINUE READING
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