Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes

Am J Hum Genet. 1991 May;48(5):1014-6.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Haplotypes
  • Humans
  • Phenylalanine / blood*
  • Phenylalanine Hydroxylase / genetics*

Substances

  • Phenylalanine
  • Phenylalanine Hydroxylase