Article
Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.
Clinical genetics - 1 Jul 1993
Eiklid K, Tranebjaerg L, Eiken H G, Pedersen J C, Michalsen H, Fluge G, Schwartz M, Nilsen B R, Bolle R, Skyberg D
Abstract excerpt
We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was foun...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Exons
- Gene Frequency
- Genetic Carrier Screening
- Genotype
- Haplotypes
- Humans
- Membrane Proteins
- Mutation
- Norway
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length