Article
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
Molecular genetics and metabolism - 1 May 2006
Friães Ana, Rêgo Ana Toste, Aragüés José Maria, Moura Luís Francisco, Mirante Alice, Mascarenhas Mário Rui, Kay Teresa Taylor, Lopes Lurdes Afonso, Rodrigues José Cidade, Guerra Sílvia, Dias Teresa, Teles Alberto Galvão, Gonçalves João
Abstract excerpt
More than 90% of congenital adrenal hyperplasia (CAH) cases are caused by 21-hydroxylase deficiency. In this study, the CYP21 gene was genotyped in 56 Portuguese unrelated patients with clinical symptoms of 21-hydroxylase deficiency, in a total of 112 independent alleles. CYP21A2 mutations were i...
Topics
- Adrenal Hyperplasia, Congenital
- Female
- Gene Conversion
- Genotype
- Humans
- Infant, Newborn
- Mutation
- Phenotype
- Point Mutation
- Portugal
- Steroid 21-Hydroxylase