Article
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Journal of medical genetics - 1 Mar 1997
Bobba A, Iolascon A, Giannattasio S, Albrizio M, Sinisi A, Prisco F, Schettini F, Marra E
Abstract excerpt
The major cause of congenital adrenal hyperplasia (CAH), a common recessive genetic disease, is the deficiency of steroid 21-hydroxylase (21OH), a microsomal enzyme encoded by the CYP21 gene. Although several CAH causing mutations have been identified in the CYP21 gene of patients with 21OH defic...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Infant, Newborn
- Male
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Steroid 21-Hydroxylase