A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.

@article{Eiken1992ADN,
  title={A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.},
  author={Hans Geir Eiken and Per Morten Knappskog and Jaran Apold and L Skjelkv{\aa}le and Helge Boman},
  journal={Human mutation},
  year={1992},
  volume={1 5},
  pages={388-91}
}
We here describe the detection of a de novo mutation in the phenylalanine hydroxylase gene in a Norwegian phenylketonuria (PKU) patient. This novel mutation, M1I, disrupts the start codon of the gene by a G to A transition. The compound heterozygote genotype (IVS-12/M1I) of this patient predicts that no phenylalanine hydroxylase enzyme is formed, thus… CONTINUE READING