Article
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.
Human mutation - 1 Jan 1993
Costes B, Fanen P, Goossens M, Ghanem N
Abstract excerpt
We describe the use of DGGE multiplex systems for rapid analysis of 15 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, in which about half of the known CF molecular defects are clustered. We have previously determined the spectrum of mutations affecting the CFTR gene...
Topics
- Alleles
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Evaluation Studies as Topic
- Exons
- Gene Amplification
- Genetic Carrier Screening
- Humans
- Membrane Proteins
- Nucleic Acid Denaturation
- Polymerase Chain Reaction
- Sensitivity and Specificity