Article
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2009
Campos Viviane C, Pereira Rossana M C, Torres Natália, Castro Margaret de, Aguiar-Oliveira Manuel H
Abstract excerpt
OBJECTIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the classical forms and in 5 patients with the nonclassical (NC) form of CAH-21OH and correlate genotype with phenotype. METHODS: Genotypes were classified into 3...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Brazil
- Child, Preschool
- Female
- Gene Frequency
- Genotype
- Humans
- Infant, Newborn
- Male
- Mutation