Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

Hum Mol Genet. 1994 May;3(5):817-8. doi: 10.1093/hmg/3.5.817.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / analysis
  • Adenine Phosphoribosyltransferase / genetics*
  • Adult
  • Female
  • Genes
  • Humans
  • Kidney Calculi / enzymology
  • Kidney Calculi / genetics*
  • Male
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • 2,8-dihydroxyadenine
  • Adenine Phosphoribosyltransferase
  • Adenine