Article
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.
Acta paediatrica (Oslo, Norway : 1992) - 1 Mar 1999
Paulino L C, Araujo M, Guerra G, Marini S H, De Mello M P
Abstract excerpt
Deficiency of adrenal steroid 21-hydroxylase is the most common form of congenital adrenal hyperplasia and it is considered to be responsible for 90% of the disease. This paper describes for the first time the CYP21B mutation profile in Brazilian patients. We genotyped 41 families with at least o...
Topics
- Adrenal Hyperplasia, Congenital
- Blotting, Southern
- Brazil
- Gene Conversion
- Gene Deletion
- Gene Frequency
- Genotype
- Humans
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length