Article
Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Oct 2012
Carvalho B, Pereira M, Marques C J, Carvalho D, Leão M, Oliveira J P, Barros A, Carvalho F
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). Complete DNA sequencing of CYP21A2 was performed in 5 patients, 3 non-classic and 2 classic forms of the disease, that were previously screened for the 10 most common mutations, in order to detect additional mutations that could justify...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Amino Acid Substitution
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Humans