Article
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Oct 2003
Torres N, Mello M P, Germano C M R, Elias L L K, Moreira A C, Castro M
Abstract excerpt
Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassi...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Child
- Child, Preschool
- Cohort Studies
- Female
- Gene Conversion
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase