A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia

Hum Mol Genet. 1993 Jul;2(7):1061-2. doi: 10.1093/hmg/2.7.1061.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Base Sequence
  • Consanguinity
  • DNA / genetics
  • Exons
  • Female
  • Homozygote
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenylalanine / blood*
  • Phenylalanine Hydroxylase / deficiency
  • Phenylalanine Hydroxylase / genetics*
  • Point Mutation*

Substances

  • Phenylalanine
  • DNA
  • Phenylalanine Hydroxylase