Article
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
Clinical endocrinology - 1 Sept 2007
Baradaran-Heravi Alireza, Vakili Rahim, Robins Tiina, Carlsson Jonas, Ghaemi Nosrat, A'rabi Azadeh, Abbaszadegan Mohammad Reza
Abstract excerpt
OBJECTIVE: Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders frequently caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). We describe three novel CYP21A2 mutations in CAH patients. DESIGN AND METHODS: Sequence analysis of the entire CYP21A2 gene followed by molecular modelling was performed in three unrelated classical CAH patients of northeastern Iranian...
Topics
- Adrenal Hyperplasia, Congenital
- Child, Preschool
- Codon, Nonsense
- Female
- Frameshift Mutation
- Gene Deletion
- Genotype
- Humans
- Infant
- Infant, Newborn
- Iran