Article
Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales.
Human molecular genetics - 1 Oct 1993
Cheadle J P, Goodchild M C, Meredith A L
Abstract excerpt
We have performed an extensive mutation analysis on 184 CF families in Wales. In our previous study, mutations on 329/369 CF chromosomes were identified after screening for delta F508 and sixteen other mutations. To identify the mutations on the remaining 40 uncharacterized CF chromosomes, we hav...
Topics
- Base Sequence
- Chloride Channels
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Ethnicity
- Europe
- Exons
- Genes
- Genotype
- Humans
- Introns
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Wales