Article
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
Human molecular genetics - 1 May 1993
Wedell A, Luthman H
Abstract excerpt
A method for genetic diagnosis of steroid 21-hydroxylase deficiency was developed based on allele-specific PCR. With this approach, genotyping of fourteen mutations and diagnosis of homozygous gene deletions can be performed within hours from tissue sampling. One patient with salt-wasting disease...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Base Sequence
- DNA
- DNA Probes
- Female
- Genotype
- Humans
- Molecular Sequence Data
- Point Mutation
- Polymerase Chain Reaction
- Pseudogenes
- Sodium Chloride
- Steroid 21-Hydroxylase