Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1141-5. doi: 10.1081/NCN-200027393.

Abstract

Five mutations in the adenine phosphoribosyltransferase (APRT) gene have been described in Japanese patients with APRT deficiency. We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.

Publication types

  • Case Reports

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / metabolism*
  • Adenine Phosphoribosyltransferase / genetics*
  • Adult
  • Aged
  • Alleles
  • DNA / metabolism
  • Heterozygote
  • Homozygote
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation*
  • Sequence Analysis, DNA
  • Urinary Calculi / enzymology*

Substances

  • 2,8-dihydroxyadenine
  • DNA
  • Adenine Phosphoribosyltransferase
  • Adenine