Article
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Human molecular genetics - 1 Dec 1996
Day D J, Speiser P W, Schulze E, Bettendorf M, Fitness J, Barany F, White P C
Abstract excerpt
Steroid 21-hydroxylase deficiency is among the most common inborn errors of metabolism in man. Characterization of mutations in the 21-hydroxylase gene (CYP21) has permitted genetic diagnosis, facilitated by the polymerase chain reaction (PCR). The most common mutation is conversion of an A or C...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Female
- Humans
- Male
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Sequence Analysis
- Steroid 21-Hydroxylase