Article
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Human molecular genetics - 1 May 1994
Ravnik-Glavac M, Glavac D, Dean M
Abstract excerpt
The gene responsible for cystic fibrosis (CF) contains 27 coding exons and more than 300 independent mutations have been identified. An efficient and optimized strategy is required to identify additional mutations and/or to screen patient samples for the presence of known mutations. We have tested several different conditions for performing single-stranded conformation polymorphism (SSCP) analysis in order to...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA, Single-Stranded
- Exons
- Genes
- Genetic Testing
- Humans
- Membrane Proteins
- Molecular Sequence Data