Article
A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory.
Human mutation - 1 Jan 1995
Wall J, Cai S, Chehab F F
Abstract excerpt
We devised a set of allele-specific probes to detect simultaneously 31 known cystic fibrosis mutations using PCR and the reverse dot blot detection format. The assay has been implemented in a clinical setting to the screening of over 750 individuals. Of these 102 Caucasians, 20 Hispanics and 1 In...
Topics
- Alleles
- Base Sequence
- Clinical Laboratory Techniques
- Cystic Fibrosis
- DNA Mutational Analysis
- DNA Probes
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction