Article
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
The Journal of clinical endocrinology and metabolism - 1 Nov 1995
Wilson R C, Harbison M D, Krozowski Z S, Funder J W, Shackleton C H, Hanauske-Abel H M, Wei J Q, Hertecant J, Moran A, Neiberger R E
Abstract excerpt
Four deleterious mutations are described in the gene for HSD11B2, which encodes the type 2 isoenzyme of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD2). In seven families with one or more members affected by apparent mineralocorticoid excess, this disorder is shown to be the result of a defic...
Topics
- 11-beta-Hydroxysteroid Dehydrogenases
- Amino Acid Sequence
- Child
- Child, Preschool
- Female
- Genes
- Homozygote
- Humans
- Hydroxysteroid Dehydrogenases
- Male
- Metabolic Diseases
- Mineralocorticoids
- Molecular Biology
- Molecular Sequence Data