Article
Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.
Molecular endocrinology (Baltimore, Md.) - 1 Jan 1990
Owerbach D, Crawford Y M, Draznin M B
Abstract excerpt
Steroid 21-hydroxylase deficiency is the leading cause of impaired cortisol synthesis in congenital adrenal hyperplasia (CAH). We have studied the structure of the CYP21B gene in 30 unrelated CAH patients using the polymerase chain reaction (PCR) to differentiate the active CYP21B gene from its h...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Base Sequence
- DNA
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Pseudogenes
- Steroid 21-Hydroxylase
- Steroid Hydroxylases