Article
Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000
Dardis A, Bergada I, Bergada C, Rivarola M, Belgorosky A
Abstract excerpt
In several studies carried out in USA and Europe, gene deletions, large gene conversions and six point mutations accounted for over 90% of the mutated alleles reported in classical congenital hyperplasia (CAH). In order to know the relative frequencies of mutations in a Latin-American population,...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Argentina
- Blotting, Southern
- DNA
- Female
- Gene Conversion
- Gene Deletion
- Genotype
- Humans
- Male
- Mutation
- Nucleic Acid Hybridization
- Point Mutation
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase