Article
Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiency.
Endocrine research - 1 Jan 2000
Chung B C, Hu M C, Guzov V M, Wu D A
Abstract excerpt
Steroid 21-hydroxylase (P450c21) deficiency is the major cause of a common genetic disease, congenital adrenal hyperplasia, with the symptoms of virilization due to steroid imbalance. We have devised a fast diagnostic method to detect common mutations in the c21B gene by a two-step gene amplifica...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Escherichia coli
- Gene Expression Regulation, Enzymologic
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Recombinant Proteins
- Restriction Mapping
- Steroid 21-Hydroxylase