Article
Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel.
Biochemical medicine and metabolic biology - 1 Feb 1994
Siegel S F, Hoffman E P, Trucco M
Abstract excerpt
Previous studies of the molecular basis of 21-hydroxylase deficiency have shown four common gene conversion mutations in exons 7 and 8. Current molecular diagnostic protocols use allele-specific oligonucleotide hybridization (ASOH) to individually detect each of these mutations and the correspond...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Heteroduplexes
- Nucleic Acid Hybridization
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic