Article
Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.
Human mutation - 1 Jan 1993
Wood N, Tyfield L, Bidwell J
Abstract excerpt
We describe a rapid and simple method for phenylketonuria genotyping which identifies five point mutations within exon 12 of the human phenylalanine hydroxylase gene. The method involves PCR amplification of the target exon and hybridization with a PCR-amplifiable synthetic DNA (universal heterod...
Topics
- Base Sequence
- DNA
- DNA Mutational Analysis
- Evaluation Studies as Topic
- Exons
- Genotype
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Nucleic Acid Heteroduplexes
- Phenylalanine Hydroxylase
- Phenylketonurias
- Point Mutation
- Polymerase Chain Reaction