Variant: rs1556026984 

    present in Gene: HPRT1
    present in Chromosome: X
    Position on Chromosome: 134475194
    Alleles of this Variant: G/C

rs1556026984 in HPRT1 gene and Dysmorphic features PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

rs1556026984 in HPRT1 gene and Lesch-Nyhan Syndrome PMID 3384338 1988 Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

PMID 2572141 1989 Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.

PMID 9452051 1998 The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

PMID 3265398 1988 Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

PMID 6853716 1983 Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

PMID 20544509 2010 Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

PMID 17027311 2007 Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

PMID 15571223 2004 Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

PMID 2910902 1989 Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

PMID 24940672 2014 Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

PMID 2246854 1990 Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

PMID 2358296 1990 Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

PMID 2347587 1990 Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

PMID 2071157 1991 Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

PMID 7627191 1995 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.

rs1556026984 in HPRT1 gene and Movement Disorders PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

rs1556026984 in HPRT1 gene and Muscle hypotonia PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.