Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
Sahota
A
A
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
Chen
J
J
Boyadjiev
S A
SA
Gault
M H
MH
Tischfield
J A
JA
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
C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine