Article
Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype.
Hypertension (Dallas, Tex. : 1979) - 1 Jun 1996
Mune T, White P C
Abstract excerpt
The syndrome of apparent mineralocorticoid excess is a form of hypertension inherited in an autosomal recessive manner. This disorder results from mutations in the HSD11K (HSD11B2) gene, which encodes the kidney isozyme of 11beta-hydroxysteroid dehydrogenase. This enzyme converts active glucocort...
Topics
- 11-beta-Hydroxysteroid Dehydrogenases
- Animals
- Base Sequence
- CHO Cells
- Cell Line
- Corticosterone
- Cricetinae
- Genotype
- Humans
- Hydrocortisone
- Hydroxysteroid Dehydrogenases
- Hypertension
- Isoenzymes
- Mineralocorticoids
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction