Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients

Genomics. 1994 May 15;21(2):453-5. doi: 10.1006/geno.1994.1296.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Base Sequence
  • Codon / genetics
  • DNA / analysis
  • Denmark
  • Exons
  • Genotype
  • Humans
  • Infant, Newborn
  • Introns
  • Mass Screening
  • Phenotype
  • Phenylalanine / metabolism*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / prevention & control
  • Point Mutation*

Substances

  • Codon
  • Phenylalanine
  • DNA
  • Phenylalanine Hydroxylase