Article
Mutations of the cystic fibrosis gene locus within the population of the Northwest of England.
European journal of pediatrics - 1 Feb 1992
Super M, Schwarz M J
Abstract excerpt
A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diagnosis becomes possible in 84% of cases. Only 1.19% of cases negative for the nine mutations have CF. The results of molecular analysis in this population have useful...
Topics
- Adolescent
- Adult
- Child
- Chromosome Mapping
- Cystic Fibrosis
- Electrophoresis, Polyacrylamide Gel
- England
- Gene Amplification
- Heterozygote
- Humans
- Mutation
- Polymerase Chain Reaction