Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias

J Inherit Metab Dis. 1993;16(3):602-4. doi: 10.1007/BF00711693.
No abstract available

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Child, Preschool
  • Chromosomes / physiology
  • Denmark
  • Genome
  • Humans
  • Mutation
  • Oligonucleotide Probes
  • Phenotype
  • Phenylalanine / blood*
  • Phenylalanine Hydroxylase / deficiency
  • Phenylketonurias / genetics*
  • Phenylketonurias / metabolism*

Substances

  • Oligonucleotide Probes
  • Phenylalanine
  • Phenylalanine Hydroxylase