Gene: [16q24/APRT] adenine phosphoribosyltransferase; urolithiasis, 2,8-dihydroxyadenine (adeninuria);
REF | SEQ,GEN,EVO
"Broderick TP &: PNAS, 84, N10, 3349-3353, 1987 HIS,LOC "Castiglione &: CCG, 40, (HGM8), 601, 1985 MEB,MUT,PAT "Doppler &: Hum Genet, 57, 404-410, 1981 HIS,LOC "Ferguson-Smith MA, Cox: CCG, 37, 127-153, 1984 LOC "Fratini A &: CCG, 43, 10-13, 1986 MEB,MUT,PAT "Fujimori &: Hum Genet, 71, 171-176, 1985 HIS,PHE,FOG "Henderson &: AJHG, 21, 61-70, 1969 MEB,MUT,PAT "Hidaka Y &: J Clin Invest, 80, 1409-1415, 1987a SEQ "Hidaka Y &: NAR, 15, 9086, 1987b PHE,FOG "Kamatani &: Hum Genet, 75, 163-168, 1987a MEB,MUT,PAT "Kamatani &: Hum Genet, 76, 148-152, 1987b HIS,PHE,FOG "Kelley &: J Clin Invest, 47, 2281-2289, 1968 MUT,PAT "Sahota &: AJHG, 48, N5, 983-989, 1991 HIS,LOC "Tischfield JA, Ruddle: PNAS, 71, N1, 45-49, 1974 SEQ,MOP "Wilson JM &: JBC, 261, 13677-13683, 1986 |
SWI | SWISSPROT: P07741 |
KEY | nucm, mtbd |
CLA | coding, basic |
LOC | 16 q24.2-.3 |
MIM | MIM: 102600 |
EZN | ENZYME: 2.4.2.7 |
