Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies

Hum Mutat. 1995;5(4):341-4. doi: 10.1002/humu.1380050413.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Exons
  • Genetic Heterogeneity*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Infant
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Single-Stranded Conformational

Substances

  • Hypoxanthine Phosphoribosyltransferase