|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
|
2246854 |
1990 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.
|
2358296 |
1990 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
|
2347587 |
1990 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
|
2910902 |
1989 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
|
2572141 |
1989 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
|
3384338 |
1988 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
|
3265398 |
1988 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
|
6853716 |
1983 |
|
rs137852488
|
|
Lesch-Nyhan Syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137852477
|
|
Gout, HPRT-Related
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
|
24940672 |
2014 |
|
rs137852477
|
|
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 |
|
rs137852477
|
|
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 |
|
rs137852477
|
|
Gout, HPRT-Related
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
|
15571223 |
2004 |
|
rs137852477
|
|
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 |
|
rs137852477
|
|
Gout, HPRT-Related
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
|
2909537 |
1989 |
|
rs137852477
|
|
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 |
|
rs137852477
|
|
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 |
|
rs137852477
|
|
Gout, HPRT-Related
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
|
3198771 |
1988 |
|
rs137852477
|
|
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 |
|
rs137852477
|
|
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 |
|
rs137852477
|
|
Gout, HPRT-Related
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase.
|
6853490 |
1983 |
|
rs137852477
|
|
Gout, HPRT-Related
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137852478
|
|
Gout, HPRT-Related
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
|
24940672 |
2014 |
|
rs137852478
|
|
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 |
|
rs137852478
|
|
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 |