Article
Detection of mutations in human DNA.
Genetic analysis, techniques and applications - 1 Feb 1992
Landegren U
Abstract excerpt
Efficient methods for the detection of mutations are of fundamental importance in research and in diagnostics. By detection of a DNA sequence alteration that cosegregates with a clinical phenotype in an affected family, the gene at fault may be identified and assigned a function. Mutation detection methods are also a rate-limiting factor for the clinical application of DNA diagnostics. Currently a large number of...
Topics
- Alleles
- DNA
- DNA Mutational Analysis
- Humans
- Nucleic Acid Denaturation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length