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 mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.