Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X

Hum Mutat. 1998;Suppl 1:S121-2. doi: 10.1002/humu.1380110140.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Codon, Terminator / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Korea
  • Male
  • Mutation
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology
  • Phenylketonurias / genetics*
  • Point Mutation

Substances

  • Codon, Terminator
  • DNA
  • Phenylalanine Hydroxylase