Article
Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Aug 2010
Marques C J, Pignatelli D, Carvalho B, Barceló J, Almeida A C, Fernandes S, Witchel S F, Sousa M, Oliveira M J, Freitas P, Fontoura M, Carvalho D, Barros A, Carvalho F
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common inherited disorder of adrenal hormone biosynthesis due to mutations in the 21-hydroxylase gene, CYP21A2. Genotyping for ten of the most frequent mutations was performed in 84 Portuguese CAH patients: 10 salt...
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Adult
- Base Sequence
- Female
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Portugal
- Promoter Regions, Genetic
- Steroid 21-Hydroxylase