Article
Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.
American journal of human genetics - 1 Mar 1991
Kang S S, Wong P W, Susmano A, Sora J, Norusis M, Ruggie N
Abstract excerpt
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency with less than 2% of normal enzyme activity is characterized by neurological abnormalities, atherosclerotic changes, and thromboembolism. We have discovered a "new" variant of MTHFR deficiency which is characterized by the absence of neurological abnormalities, an enzyme activity of about 50% of the normal value, and distinctive thermolability under...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- Coronary Disease
- Enzyme Activation
- Female
- Gene Frequency
- Genes, Recessive
- Genetic Carrier Screening