Article
Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
Human mutation - 1 Jan 1994
Ravnik-Glavac M, Glavac D, Chernick M, di Sant'Agnese P, Dean M
Abstract excerpt
Twenty adolescent and adult cystic fibrosis (CF) patients have been studied for the presence of mutations in the CFTR gene. Mutations other than deltaF508 have been detected by comparison to the single-stranded conformation polymorphism (SSCP) pattern of known mutations in eight exons, in which 8...
Topics
- Adolescent
- Adult
- Base Sequence
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Exons
- Female
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Sweat