rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
24940672
2014
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
20544509
2010
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
17027311
2007
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
15571223
2004
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
9452051
1998
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.
7627191
1995
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
2071157
1991
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
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
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.
2358296
1990
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
2347587
1990
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
2910902
1989
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
2572141
1989
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
3265398
1988
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
3384338
1988
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
0.800
GeneticVariation
UNIPROT
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
6853716
1983
rs137852496
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
Lesch-Nyhan Syndrome
A
0.800
CausalMutation
CLINVAR