Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population

Hum Mutat. 1998;Suppl 1:S123-4. doi: 10.1002/humu.1380110141.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Belgium
  • Codon, Terminator / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Frameshift Mutation
  • Humans
  • Mutagenesis, Insertional
  • Mutation
  • Phenylalanine / blood*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology
  • Phenylketonurias / genetics
  • Point Mutation

Substances

  • Codon, Terminator
  • Phenylalanine
  • DNA
  • Phenylalanine Hydroxylase