Article
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
International journal of molecular medicine - 1 Oct 2010
Vrzalová Zuzana, Hrubá Zuzana, St'ahlová Hrabincová Eva, Pouchlá Slavka, Votava Felix, Kolousková Stanislava, Fajkusová Lenka
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to m...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Czech Republic
- Gene Deletion
- Gene Duplication
- Genotype
- Humans
- Mutation
- Phenotype
- Point Mutation
- Steroid 21-Hydroxylase