Article
The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.
Human genetics - 1 Feb 1995
Knappskog P M, Eiken H G, Martinez A, Flatmark T, Apold J
Abstract excerpt
The mutation S349P in exon 10 of the phenylalanine hydroxylase (PAH) gene was identified in one Norwegian and one Polish phenylketonuria (PKU) allele on a haplotype 1.7 background. This missense mutation in PAH codon 349 is a T to C transition in cDNA position 1267. This mutation has been reporte...
Topics
- Base Sequence
- Gene Expression
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction