Article
Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.
Human mutation - 1 Jan 1995
Bienvenu T, Cazeneuve C, Kaplan J C, Beldjord C
Abstract excerpt
In order to establish counseling guidelines and aid carrier risk assessment, we sought to establish the frequencies of cystic fibrosis (CF) mutations that are present in CF families living in the Ile de France region, a region notable for its ethnic heterogeneity. We studied 470 CF chromosomes in...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Electrophoresis, Polyacrylamide Gel
- France
- Furocoumarins
- Genetic Heterogeneity
- Humans
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction