Article
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.
Nucleic acids research - 11 Apr 1991
Eiken H G, Odland E, Boman H, Skjelkvåle L, Engebretsen L F, Apold J
Abstract excerpt
PCR amplification, either conventional, or as site directed mutagenesis using primers with mismatched 3'-ends, followed by restriction endonuclease digestion, provides rapid, non-isotope assays of known mutations in the human phenylalanine hydroxylase gene. Such assays were shown to have the potential to detect all of the 18 presently reported phenylketonuria mutations. The practical applicability of this...
Topics
- Base Sequence
- DNA Restriction Enzymes
- Electrophoresis, Agar Gel
- Gene Amplification
- Humans
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Restriction Mapping