Article
Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations.
Human mutation - 1 Jan 1995
Eggerding F A, Iovannisci D M, Brinson E, Grossman P, Winn-Deen E S
Abstract excerpt
Isolation of the gene for cystic fibrosis (CF), the cystic fibrosis transmembrane conductance regulator (CFTR), provided a basis for analyzing its molecular pathology and resulted in the identification of > 400 mutations associated with disease. Except for the delta F508 mutation, no other single...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Fluorescent Dyes
- Genes, Regulator
- Humans
- Ligases
- Membrane Proteins
- Molecular Sequence Data
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Sensitivity and Specificity