Frequency distribution of the Q188R mutation in the Irish galactosaemic population

J Inherit Metab Dis. 1996;19(2):217-9. doi: 10.1007/BF01799433.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Galactosemias / genetics*
  • Gene Frequency
  • Genotype
  • Humans
  • Ireland
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

  • UTP-Hexose-1-Phosphate Uridylyltransferase