Article
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
Human mutation - 1 Jan 1999
Kapelari K, Ghanaati Z, Wollmann H, Ventz M, Ranke M B, Kofler R, Peters H
Abstract excerpt
Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia (CAH). CAH due to 21-hydroxylase deficiency is divided into three classes: salt-wasting (classical), non-classical and simple virilizing, reflecting different degrees of clinical severity. Using polymerase chai...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Alternative Splicing
- Female
- Gene Deletion
- Genetic Testing
- Humans
- Male
- Mutation
- Mutation, Missense
- Point Mutation
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase