Article
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Jan 1997
Nikoshkov A, Lajic S, Holst M, Wedell A, Luthman H
Abstract excerpt
Lesions in the gene encoding steroid 21-hydroxylase result in congenital adrenal hyperplasia, with impaired secretion of cortisol and aldosterone from the adrenal cortex and overproduction of androgens. Mild forms of the disease cause late-onset symptoms of hyperandrogenism and are thought to be...
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Animals
- COS Cells
- Child
- Female
- Gene Deletion
- Gene Expression
- Genotype
- Humans
- Kinetics
- Male
- Mutagenesis
- Mutagenesis, Site-Directed
- Progesterone
- Protein Biosynthesis
- Pseudogenes
- Recombinant Proteins