Article
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
Human mutation - 1 Jan 1996
Eiken H G, Knappskog P M, Apold J, Flatmark T
Abstract excerpt
The G46S mutation in the phenylalanine hydroxylase (PAH) gene was identified by fluorescence-based single-strand conformation polymorphism (F-SSCP) analysis on phenylketonuria (PKU) haplotype 5.9 alleles. DNA sequencing of PAH exon 2 revealed a G-to-A transition in cDNA position 136. G46S mutatio...
Topics
- Adult
- Base Sequence
- Cell Line
- Factor Xa
- Female
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein Conformation