Article
[A simple and reliable method for detection of the R408W mutation in exon 12 of the phenylalanine hydroxylase gene in the molecular diagnosis of phenylketonuria].
Genetika - 1 May 1993
Ivashchenko T E, Belova E G, Baranov V S
Abstract excerpt
A new method for identification of R408W mutation common in phenylketonuria (PKU) patients in Russia and Eastern Europe is presented. The method is based on restriction of amplified exon 12. Amplification was achieved by PCR and was followed by restriction with StyI endonuclease. This enzyme spec...
Topics
- Alleles
- DNA
- Exons
- Female
- Humans
- Mutation
- Nucleic Acid Hybridization
- Pedigree
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Reproducibility of Results