The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations

Hum Mutat. 1998:Suppl 1:S88-90. doi: 10.1002/humu.1380110130.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cells, Cultured
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Family Health
  • Frameshift Mutation
  • France
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency*
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • Lesch-Nyhan Syndrome / enzymology
  • Lesch-Nyhan Syndrome / genetics*
  • Mutation
  • Mutation, Missense
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion

Substances

  • DNA, Complementary
  • Hypoxanthine Phosphoribosyltransferase