Article
Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Hormone research - 1 Jan 2000
Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A
Abstract excerpt
Molecular defects in the gene encoding steroid 21-hydroxylase (CYP21) result in impairment of adrenal steroid synthesis in patients affected with autosomal-recessive congenital adrenal hyperplasias (CAH). In this study, we report on the molecular screening of six point mutations, large deletions, gene conversion events and duplications in 25 unrelated Lebanese families affected by CAH due to steroid...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Alleles
- Blotting, Southern
- Child
- Child, Preschool
- Consanguinity
- DNA Mutational Analysis
- Exons
- Female
- Gene Conversion
- Gene Deletion
- Gene Duplication