rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
G
0.800
CausalMutation
CLINVAR
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
17027311
2007
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
7987318
1994
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Human hypoxanthine-guanine phosphoribosyltransferase.
6853490
1983
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
15571223
2004
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
2909537
1989
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
3198771
1988
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
2896620
1988
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
6706936
1984
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
3358423
1988
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
24940672
2014
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
6572373
1983
rs137852504
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Gout, HPRT-Related
0.800
GeneticVariation
UNIPROT
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
20544509
2010