Article
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
American journal of human genetics - 1 May 1995
Goyette P, Frosst P, Rosenblatt D S, Rozen R
Abstract excerpt
5-Methyltetrahydrofolate, the major form of folate in plasma, is a carbon donor for the remethylation of homocysteine to methionine. This form of folate is generated from 5,10-methylenetetrahydrofolate through the action of 5,10-methylenetetrahydrofolate reductase (MTHFR), a cytosolic flavoprotei...
Topics
- Adolescent
- Adult
- Age of Onset
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Female
- Genotype
- Homozygote
- Humans
- Infant
- Male
- Metabolism, Inborn Errors
- Methylenetetrahydrofolate Reductase (NADPH2)
- Molecular Sequence Data
- Mutation
- Oxidoreductases Acting on CH-NH Group Donors
- Phenotype