MTHFR Polymorphisms and Disease
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Per Magne Ueland
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Table of contents1. Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and
Overview of Mutations/Polymorphisms 2. Assays for Methylenetetrahydrofolate Reductase Polymorphisms 3. Biochemical Characterization of Human Methylenetetrahydrofolate Reductase
and Its Common Variants 4. Severe Methylenetetrahydrofolate Reductase Deficiency 5. Mild MTHFR Deficiency and Folate Status 6. Riboflavin and Methylenetetrahydrofolate Reductase 7. The Molecular Dynamics of Abnormal Folate Metabolism and DNA Methylation:
Implications for Disease Susceptibility and Progression 8. Methylenetetrahydrofolate Reductase 677C‡T
Polymorphism and Risk of Arterial Occlusive Disease 9. Methylenetetrahydrofolate Reductase and Venous Thrombosis 10. Neural Tube Defects, Other Congenital Malformations and Single Nucleotide
Polymorphisms in the 5,10 Methylenetetrahydrofolate Reductase (MTHFR)
Gene: A Meta-Analysis 11. Pregnancy Complications 12. Neuropsychiatric Disease and Methylenetetrahydrofolate Reductase 13. Methylenetetrahydrofolate Reductase Polymorphisms and Renal Failure 14. MTHFR Polymorphisms and Colorectal Neoplasia 15. Methylenetetrahydrofolate Reductase Polymorphisms: Pharmacogenetic
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