Article
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
The Journal of clinical endocrinology and metabolism - 1 Jan 2004
Kharrat Maher, Tardy Véronique, M'Rad Ridha, Maazoul Faouzi, Jemaa Lamia Ben, Refaï Mohamed, Morel Yves, Chaabouni Habiba
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase (CYP21) gene. To determine the mutational spectrum in the Tunisian CAH population, the CYP21 active gene was analyzed in 51 unrelated patients using our cascade str...
Topics
- Adrenal Hyperplasia, Congenital
- DNA Mutational Analysis
- Female
- Gene Deletion
- Gene Frequency
- Genotype
- Homozygote
- Humans
- Introns
- Male
- Mutation
- Phenotype
- Point Mutation
- Steroid 21-Hydroxylase
- Tunisia