Article
A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism - 1 Jul 1997
Okuyama E, Nishi N, Onishi S, Itoh S, Ishii Y, Miyanaka H, Fujita K, Ichikawa Y
Abstract excerpt
Congenital lipoid adrenal hyperplasia (lipoid CAH) is a relatively common genetic disorder of adrenal and gonadal steroidogenesis and is the most severe form of CAH. As typical affected individuals cannot produce any steroid hormones or can only produce low levels of steroid hormones in the adren...
Topics
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- COS Cells
- Female
- Humans
- Infant
- Membrane Proteins
- Mutation
- Phosphoproteins
- Polymerase Chain Reaction
- Transfection