Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity

J Inherit Metab Dis. 1996;19(2):227-30. doi: 10.1007/BF01799436.
No abstract available

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Heterozygote
  • Humans
  • Mutation*
  • Phenylalanine / blood*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / genetics*
  • Polymorphism, Restriction Fragment Length
  • Spain

Substances

  • Phenylalanine
  • Phenylalanine Hydroxylase