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

Ссылки: