Article
Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
The Journal of clinical endocrinology and metabolism - 1 Mar 1992
Owerbach D, Ballard A L, Draznin M B
Abstract excerpt
We have characterized mutations in the steroid 21-hydroxylase gene (CYP21) in salt-wasting congenital adrenal hyperplasia (SW-CAH) subjects, healthy control subjects, and affected sibling pairs with SW-CAH. To identify point mutations in CYP21, we have used an improved polymerase chain reaction methodology that allows analysis of the entire CYP21 gene. In addition, we have used polymerase chain reaction to search...
Topics
- Adrenal Hyperplasia, Congenital
- Animals
- Base Sequence
- Cell Line
- DNA
- Exons
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides