A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family

Hum Mutat. 1992;1(4):344-6. doi: 10.1002/humu.1380010414.
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
  • Consanguinity
  • DNA / genetics
  • DNA Mutational Analysis
  • Ethnicity
  • Exons
  • Female
  • Humans
  • Israel
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenylalanine Hydroxylase / deficiency
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology*
  • Phenylketonurias / genetics*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion*

Substances

  • DNA
  • Phenylalanine Hydroxylase