title: Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
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.
authors.affiliation: Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.
authors.forename: Atsuo
authors.initials: A
authors.lastname: Taniguchi
authors.forename: Sanae
authors.initials: S
authors.lastname: Tsuchida
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Kuno
authors.forename: Masayuki
authors.initials: M
authors.lastname: Mita
authors.forename: Tastuya
authors.initials: T
authors.lastname: Machida
authors.forename: Naomasa
authors.initials: N
authors.lastname: Ioritani
authors.forename: Chihiro
authors.initials: C
authors.lastname: Terai
authors.forename: Hisashi
authors.initials: H
authors.lastname: Yamanaka
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism*; D000228:Adenine Phosphoribosyltransferase / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D004247:DNA / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA; D014545:Urinary Calculi / Q000201:enzymology*
chemical_list: C002993:2,8-dihydroxyadenine; D004247:DNA; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine