Article
A novel mutation in exon 3 of the CFTR gene.
Human genetics - 1 Apr 1993
Guillermit H, Jéhanne M, Quéré I, Audrézet M P, Mercier B, Férec C
Abstract excerpt
We have screened the 27 exons of the cystic fibrosis transmembrane conductance regulator gene in 87 non-delta F508 chromosomes of Breton origin using the combined techniques of denaturing gradient gel electrophoresis and direct sequencing. By this process, we have detected a new missense mutation...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation