Article
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Genomics - 1 Dec 1993
Cuppens H, Marynen P, De Boeck C, Cassiman J J
Abstract excerpt
We have previously shown that about 85% of the mutations in 194 Belgian cystic fibrosis alleles could be detected by a reverse dot-blot assay. In the present study, 50 Belgian chromosomes were analyzed for mutations in the cystic fibrosis transmembrane conductance regulator gene by means of direc...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Belgium
- Chloride Channels
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Frameshift Mutation
- Humans
- Introns
- Membrane Proteins