Article
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.
Human molecular genetics - 1 Aug 1993
Claustres M, Laussel M, Desgeorges M, Giansily M, Culard J F, Razakatsara G, Demaille J
Abstract excerpt
In order to characterize the non-delta F508 mutations that account for 36% of cystic fibrosis (CF) chromosomes in Southern France in a sample of 137 patients, we have systematically screened the entire coding region and adjacent sequences of the cystic fibrosis transmembrane conductance regulator...
Topics
- Alleles
- Codon
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Exons
- Frameshift Mutation
- France
- Geography
- Humans
- Introns
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Restriction Mapping