Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
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.
Taniguchi
Atsuo
A
Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.
Tsuchida
Sanae
S
Kuno
Shin-Ichi
S
Mita
Masayuki
M
Machida
Tastuya
T
Ioritani
Naomasa
N
Terai
Chihiro
C
Yamanaka
Hisashi
H
Kamatani
Naoyuki
N
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*
C002993:2,8-dihydroxyadenine; D004247:DNA; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine