Article
Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess.
American journal of human genetics - 1 Aug 1998
Li A, Tedde R, Krozowski Z S, Pala A, Li K X, Shackleton C H, Mantero F, Palermo M, Stewart P M
Abstract excerpt
The syndrome of apparent mineralocorticoid excess (AME) is a heritable form of hypertension in which cortisol acts as a potent mineralocorticoid. The type I variant results in a severe clinical and biochemical phenotype and arises because of mutations in the gene encoding the type 2 isozyme of 11...
Topics
- 11-beta-Hydroxysteroid Dehydrogenases
- Adult
- Aldosterone
- Amino Acid Substitution
- Base Sequence
- Blood Pressure
- Cell Line
- Child
- Female
- Genetic Variation
- Heterozygote
- Humans
- Hydrocortisone
- Hydroxysteroid Dehydrogenases
- Hypertension