Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria

Hum Mol Genet. 1993 May;2(5):605-6. doi: 10.1093/hmg/2.5.605.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis
  • Ethnicity
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Phenylalanine Hydroxylase / deficiency
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology
  • Phenylketonurias / genetics*
  • Polymerase Chain Reaction

Substances

  • DNA
  • Phenylalanine Hydroxylase