Article
Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
Cellular and molecular biology (Noisy-le-Grand, France) - 17 Aug 2015
Forouzanfar K, Seifi M, Hashemi-Gorji F, Karimi N, Estiar M A, Karimoei M, Sakhinia E, Karimipour M, Ghergherehchi R
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive enzymatic disorder involving the synthesis of adrenal corticosteroids. 21-Hydroxylase deficiency (21-OHD) is the most common form of the disease which is observed in more than 90% of patients with CAH. Early identification of mutations in the genes involved in this disease is critical. A marker of the disease, errors in the CYP21A2 gene, is...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- DNA Mutational Analysis
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Humans
- Male
- Mutation
- Mutation Rate