Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Hypoxanthin-Phosphoribosyltransferase 1

Das Enzym, welches durch das Gen HPRT1 kodiert wird spielt eine wichtige Rolle im Purinabbau. Mutationen führen je nach schwere der Funktionsbeeinträchtigung zum x-chromosomal rezessiven Lesch-Nyhan-Syndrom oder zu familiärer Gicht.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kelley-Seegmiller-Syndrom
HPRT1
Lesch-Nyhan-Syndrom
HPRT1

Referenzen:

1.

Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease.

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2.

None (1977) A probable sex difference in some mutation rates.

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3.

Gartler SM et al. (1975) Half chromatid mutations: transmission in humans?

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4.

Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

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5.

Wilson JM et al. (1986) A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

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6.

Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid.

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7.

Nabholz M et al. (1969) Genetic analysis with human--mouse somatic cell hybrids.

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8.

McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

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9.

Silvers DN et al. (1972) Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis.

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10.

Migeon BR et al. (1968) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

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11.

Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.

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12.

Nyhan WL et al. (1970) Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.

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13.

Greene ML et al. (1970) Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.

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14.

Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.

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15.

Seegmiller JE et al. (1967) Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

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16.

Rosenbloom FM et al. (1967) Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.

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17.

Lloyd KG et al. (1981) Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.

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18.

Strauss GH et al. (1980) An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

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19.

Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.

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20.

Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.

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21.

Wong DF et al. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.

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22.

Graham GW et al. (1996) Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.

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23.

Zoref-Shani E et al. (2000) Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.

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24.

Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.

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25.

LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

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26.

HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.

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27.

Francke U et al. (1977) Answer to criticism of Morton and Lalouel.

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28.

Rosenstraus M et al. (1975) Isolation of mammalian cell mutants deficient in glucose-6-phosphate dehydrogenase activity: linkage to hypoxanthine phosphoribosyl transferase.

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29.

Shows TB et al. (1975) Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.

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30.

De Gregorio L et al. (2000) An unexpected affected female patient in a classical Lesch-Nyhan family.

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31.

Gutensohn W et al. (1979) Partial deficiency of hypoxanthine-phosphoribosyltransferase:evidence for a structural mutation in a patient with gout.

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32.

Toyo-Oka T et al. (1975) X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency without neurological disorders. a report of a family.

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33.

Mizunuma M et al. (2001) A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.

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34.

McKeran RO et al. (1975) The diagnosis of the carrier state for the Lesch--Nyhan syndrome.

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35.

Colgin LM et al. (2002) The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.

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36.

Fox IH et al. (1975) Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

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37.

Fujimori S et al. (1992) A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.

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38.

van Bogaert P et al. (1992) Lesch-Nyhan syndrome in a girl.

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39.

Sculley DG et al. (1992) A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

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40.

Lightfoot T et al. (1992) The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

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41.

Marcus S et al. (1992) Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.

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42.

Monnat RJ et al. (1992) Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications.

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43.

Keebaugh AC et al. (2007) Gene duplication and inactivation in the HPRT gene family.

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44.

Gordon RB et al. (1991) The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA.

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45.

Sculley DG et al. (1991) Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.

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46.

Davidson BL et al. (1991) Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

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47.

Tarlé SA et al. (1991) Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

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48.

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

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49.

Monk M et al. (1990) Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay.

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50.

Fujimori S et al. (1990) Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.

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51.

Edwards A et al. (1990) Automated DNA sequencing of the human HPRT locus.

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52.

Gibbs RA et al. (1990) Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

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53.

Skopek TR et al. (1990) Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

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54.

None (1989) Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.

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55.

Snyder FF et al. (1989) Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

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56.

Koller BH et al. (1989) Germ-line transmission of a planned alteration made in a hypoxanthine phosphoribosyltransferase gene by homologous recombination in embryonic stem cells.

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57.

Davidson BL et al. (1989) Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

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58.

Ogasawara N et al. (1989) Molecular analysis of a female Lesch-Nyhan patient.

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59.

Yang TP et al. (1988) Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.

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60.

Dobrovic A et al. (1987) A HindIII RFLP for the HPRT pseudogene on chromosome 3 (HPRTP1).

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61.

Fujimori S et al. (1988) Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

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62.

Sinnett D et al. (1988) Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.

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63.

Davidson BL et al. (1989) Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

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64.

Fujimori S et al. (1989) Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

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65.

Francke U et al. (1979) Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse.

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66.

Gibbs RA et al. (1989) Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

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67.

Kim SH et al. (1986) The organization of the human HPRT gene.

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68.

Patel PI et al. (1986) Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

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69.

Kuehn MR et al. () A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.

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70.

Davidson BL et al. (1988) Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

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71.

Simpson D et al. (1988) A method for specific cloning and sequencing of human hprt cDNA for mutation analysis.

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72.

Cariello NF et al. (1988) Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.

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73.

Davidson BL et al. (1988) Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

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74.

Gibbs RA et al. (1987) Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.

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75.

Doetschman T et al. () Targetted correction of a mutant HPRT gene in mouse embryonic stem cells.

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76.

Caskey CT et al. (1979) The HPRT locus.

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77.

Hooper M et al. () HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.

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78.

Stout JT et al. (1985) HPRT: gene structure, expression, and mutation.

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79.

Myers RM et al. (1985) Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

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80.

None () Linkage studies employing mouse--man somatic cell hybrids.

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81.

Dancis J et al. (1973) Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

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82.

Benke PJ et al. (1973) Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.

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83.

McDonald JA et al. (1972) Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

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84.

Emmerson BT et al. (1974) Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.

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85.

Benke PJ et al. (1973) In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome.

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86.

Francke U et al. (1974) Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

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87.

Kelley WN et al. (1969) Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.

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88.

DeMars R et al. (1969) Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.

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89.

Emmerson BT et al. (1972) Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.

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90.

None (1972) Expression of the mammalian X chromosome before and after fertilization.

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91.

None (1972) Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme.

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92.

Cox RP et al. (1970) Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells.

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93.

Kogut MD et al. (1970) Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.

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94.

None (1970) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.

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95.

Goss SJ et al. (1977) Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation.

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96.

Sass JK et al. (1965) Juvenile gout with brain involvement.

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97.

Newcombe DS et al. (1966) Treatment of x-linked primary hyperuricemia with allopurinol.

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98.

Shapiro SL et al. (1966) X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.

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99.

Yang TP et al. () Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

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100.

Wilson JM et al. (1983) Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.

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101.

Snyder FF et al. (1984) Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.

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102.

Jolly DJ et al. (1983) Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

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103.

Nussbaum RL et al. (1983) A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

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104.

Miller AD et al. (1983) A transmissible retrovirus expressing human hypoxanthine phosphoribosyltransferase (HPRT): gene transfer into cells obtained from humans deficient in HPRT.

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105.

Wilson JM et al. (1983) Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

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106.

Melton DW et al. (1984) Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.

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107.

Wilson JM et al. (1983) Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

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108.

Holland PC et al. (1983) Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.

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109.

Wilson JM et al. (1984) Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.

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110.

Wilson JM et al. (1983) Human hypoxanthine-guanine phosphoribosyltransferase.

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111.

Wilson JM et al. (1983) Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

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112.

Dempsey JL et al. (1983) Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning.

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113.

Pai GS et al. (1980) Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.

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114.

Brennand J et al. (1982) Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.

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115.

Jolly DJ et al. (1982) Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.

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116.

Wilson JM et al. (1982) Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.

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117.

None (1980) Reversion of a mutation affecting the molecular weight of HGPRT: intragenic suppression and localization of X-linked genes.

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118.

Strauss M et al. (1981) HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.

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119.

Rijksen G et al. (1981) Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

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120.

Wilson JM et al. (1981) Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme.

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121.

Zannis VI et al. (1980) Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.

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122.

None (1980) Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.

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123.

Renwick PJ et al. (1995) Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.

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124.

Zoref E et al. (1979) Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.

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125.

Lightfoot T et al. (1994) Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.

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126.

Boyd M et al. (1993) Screening for molecular pathologies in Lesch-Nyhan syndrome.

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127.

Willers I et al. (1977) Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.

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128.

Wu CL et al. (1993) Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.

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129.

Aral B et al. (1996) Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.

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130.

Engle SJ et al. (1996) HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.

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131.

Malleson PN et al. (1996) The incidence of pediatric rheumatic diseases: results from the Canadian Pediatric Rheumatology Association Disease Registry.

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132.

Hashimi S et al. (1976) Further evidence of X-linkage of hypoxanthine phosphoribosyl-transferase in the mouse.

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133.

NCBI article

NCBI 3251 [^]
134.

OMIM.ORG article

Omim 308000 [^]
135.

Orphanet article

Orphanet ID 122476 [^]
136.

Wikipedia Artikel

Wikipedia DE (Hypoxanthin-Guanin-Phosphoribosyltransferase) [^]
Update: 9. Mai 2019