Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
|
24940672 |
2014 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
|
20544509 |
2010 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
|
17027311 |
2007 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
|
15571223 |
2004 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
|
9452051 |
1998 |
Lesch-Nyhan Syndrome
|
|
0.810 |
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 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
A G-to-A substitution at base 208 in exon 3, which predicted glycine 70 to arginine, was detected in the LNS patient (identical mutation with HPRT Utrecht).
|
8112742 |
1994 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
|
2071157 |
1991 |
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 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.
|
2358296 |
1990 |
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 |
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 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
|
2572141 |
1989 |
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 |
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 |
Lesch-Nyhan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
|
6853716 |
1983 |
Lesch-Nyhan Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
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