Article
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
Human molecular genetics - 1 Apr 1992
Jones C T, McIntosh I, Keston M, Ferguson A, Brock D J
Abstract excerpt
We have used the chemical cleavage mismatch technique to screen for mutations in the cystic fibrosis gene. Analysis of exons 10 and 11 in the first nucleotide binding fold led to the detection of several described mutations and two novel mutations, V520F and C524X. V520F results from a G-->T nucl...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Chloride Channels
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Epithelium
- Exons
- Humans
- Introns
- Ion Channels
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Point Mutation
- Polymerase Chain Reaction