Article
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Human mutation - 1 Jan 1997
Macek M, Mercier B, Macková A, Miller P W, Hamosh A, Férec C, Cutting G R
Abstract excerpt
More than 500 mutations have been identified in the CFTR gene, making it an excellent system for testing mutation scanning techniques. To assess the sensitivity of denaturing gradient gel electrophoresis (DGGE), we collected a representative group of 202 CFTR mutations. All mutations analyzed wer...
Topics
- Alleles
- Asian People
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA Primers
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Humans
- Male
- Models, Genetic
- Mutation
- Polymerase Chain Reaction
- Retrospective Studies