Methylenetetrahydrofolate Reductase Genotyping

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Contents 1 More Specific Terms 2 Clinical-significance 3 Specimen 4 More General Terms 5 Additional Terms 6 References

More Specific Terms

• MTHFR gene p.C677T

Clinical-significance

• C677T, C677E, A1298C mutations
• determines plasma homocysteine-lowering effect of folate supplementation

Specimen

• whole blood

More General Terms

• molecular diagnostic test

Additional Terms

• 5,10-methylenetetrahydrofolate reductase (MTHFR)

References

1. Fohr IP et al 5,10-Methylenetetrahydrofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methyltetrahydrofolate or folic acid in healthy young women American Journal of Clinical Nutrition, 2002 75:275-282 <PubMed> PMID: [1] <Internet> [2]

methylenetetrahydrofolate reductase (MTHFR) genotyping