Clinical Chemistry · 1991 · 85 citations · 7 references
Life SciencesGeneticsMolecular GeneticsGenetic EngineeringMedical GeneticsMolecular BiotechnologyCystic FibrosisMutagenesis StrategiesMutation AnalysisMutation ScreeningPolymerase Chain ReactionSite-directed MutagenesisCftr Gene MutationsCystic Fibrosis GeneticsCystic Fibrosis ScreeningDetectionMutagenic Polymerase Chain ReactionMutant DetectionPcr-based MutagenesisPolymerase Chain Reaction-based Screening
The polymerase chain reaction (PCR) has been applied in a novel manner to detect the multiple mutations causing cystic fibrosis (CF). PCR-mediated site-directed mutagenesis (PSM) has been applied to create allele-specific restriction enzyme cutting sites for three of the more common mutations. Two other mutations after cutting sites on their own. We discuss the implications for the expedient detection of five different CF-causing mutations.
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A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
Lucy R. Osborne, Richard A. Knight, George Santis et al. · PubMed · 1991 · 116 citations