Article
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
American journal of human genetics - 1 Dec 1996
Goyette P, Christensen B, Rosenblatt D S, Rozen R
Abstract excerpt
Methylenetetrahydrofolate reductase (MTHFR) catalyzes the synthesis of 5-methyltetrahydrofolate, a methyl donor in the conversion of homocysteine to methionine. Patients with severe MTHFR deficiency have hyperhomocysteinemia, hypomethioninemia, and a range of neurological and vascular findings with a variable age at onset. We have previously described nine mutations in patients with severe MTHFR deficiency. A...
Topics
- Adolescent
- Alanine
- DNA Mutational Analysis
- Female
- Genotype
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Methylenetetrahydrofolate Reductase (NADPH2)
- Oxidoreductases Acting on CH-NH Group Donors
- Point Mutation
- Valine