Article
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
Clinical endocrinology - 1 Jan 2015
Barbaro Michela, Soardi Fernanda C, Östberg Linus J, Persson Bengt, de Mello Maricilda Palandi, Wedell Anna, Lajic Svetlana
Abstract excerpt
BACKGROUND: A detailed genotype-phenotype evaluation is presented by studying the enzyme activities of five rare amino acid substitutions (Arg233Gly, Ala265Ser, Arg341Trp, Arg366Cys and Met473Ile) identified in the CYP21A2 gene in patients investigated for Congenital adrenal hyperplasia (CAH). OB...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Child
- Female
- Genotype
- Humans
- In Vitro Techniques
- Male
- Mutation
- Phenotype
- Steroid 21-Hydroxylase