Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

Hum Mutat. 1995;6(3):247-9. doi: 10.1002/humu.1380060308.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / genetics*

Substances

  • Phenylalanine Hydroxylase