Article
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
European journal of human genetics : EJHG - 1 Jan 2000
Kluijtmans L A, Wendel U, Stevens E M, van den Heuvel L P, Trijbels F J, Blom H J
Abstract excerpt
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is an inborn error of folate metabolism, and is inherited as an autosomal recessive trait. MTHFR is a key enzyme in folate-dependent remethylation of homocysteine, and reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate....
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- DNA Primers
- Female
- Humans
- Metabolism, Inborn Errors
- Methylenetetrahydrofolate Reductase (NADPH2)
- Molecular Sequence Data
- Mutation
- Oxidoreductases Acting on CH-NH Group Donors
- Sequence Homology, Amino Acid