title: Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
authors.forename: A
authors.initials: A
authors.lastname: Sahota
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: S A
authors.initials: SA
authors.lastname: Boyadjiev
authors.forename: M H
authors.initials: MH
authors.lastname: Gault
authors.forename: J A
authors.initials: JA
authors.lastname: Tischfield
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000235:genetics*; D000328:Adult; D005260:Female; D005796:Genes; D006801:Humans; D007669:Kidney Calculi / Q000201:enzymology / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine