A new PKU mutation associated with haplotype 12

Hum Mol Genet. 1992 Dec;1(9):765-6. doi: 10.1093/hmg/1.9.765.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 12
  • Exons
  • Female
  • Haplotypes
  • Humans
  • Leucine
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology*
  • Phenylketonurias / genetics*
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length*
  • Proline

Substances

  • Oligodeoxyribonucleotides
  • Proline
  • Phenylalanine Hydroxylase
  • Leucine