Article
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.
Human mutation - 1 Jan 1992
Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M
Abstract excerpt
In the search for mutations in the cystic fibrosis gene in patients from the Mediterranean area, we have analysed exons 4, 9, 10, 19, and 21 by the single-strand conformation polymorphism (SSCP) technique in 50 patients with at least one non-delta F508 chromosome. Ten samples demonstrated a shift...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- Exons
- Frameshift Mutation
- France
- Genetic Variation
- Humans
- Introns
- Membrane Proteins
- Molecular Sequence Data
- Polymorphism, Genetic