Article
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
Human mutation - 1 Jan 1996
Wu Y, Hofstra R M, Scheffer H, Uitterlinden A G, Mullaart E, Buys C H, Vijg J
Abstract excerpt
The large number of possible disease-causing mutations in the 27 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has severely limited direct diagnosis of cystic fibrosis (CF) patients and carriers by mutation detection. Here we show that in principle testing for mutat...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Electrophoresis, Gel, Two-Dimensional
- Humans
- Mutation
- Polymerase Chain Reaction