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Index > Protein center > HPRT1(Gene name) > Human
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  • HPRT1 (Gene name),
  • Hypoxanthine-guanine phosphoribosyltransferase (Protein name ),  HPRT_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    HPRT1(HPRT);
    Protein name:
    Hypoxanthine-guanine phosphoribosyltransferase(HGPRT;HGPRTase);
    Alternative:

    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homotetramer.
    Function:
    Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
    Subcellular Location:
    Cytoplasm
    Protein Attributes:
    Sequence length:
    218
    Sequence:
    50:
    MATRSPGVVI | SDDEPGYDLD | LFCIPNHYAE | DLERVFIPHG | LIMDRTERLA | 
    100:
    RDVMKEMGGH | HIVALCVLKG | GYKFFADLLD | YIKALNRNSD | RSIPMTVDFI | 
    150:
    RLKSYCNDQS | TGDIKVIGGD | DLSTLTGKNV | LIVEDIIDTG | KTMQTLLSLV | 
    200:
    RQYNPKMVKV | ASLLVKRTPR | SVGYKPDFVG | FEIPDKFVVG | YALDYNEYFR | 
    218:
    DLNHVCVISE | TGKAKYKA
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    SMR:
    KEGG:
    MIM:
    Pfam:
    UniGene:
    Uniprot:
     
    FOR
    ELISA Kit for Human HGPRT
    Cat.:
    E15113h
    Price:
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    ELISA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    ELISA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    ELISA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    ELISA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    ELISA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    CLIA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    CLIA Kit for Human HGPRT
    Cat.:
    U15113h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    CLIA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    CLIA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    CLIA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    CLIA Kit for Human HGPRT
    MSDS:
    Please sign in first.
    Polyclonal Antibody for Human HGPRT
    Polyclonal Antibody for Human HGPRT
    Polyclonal Antibody for Human HGPRT
    Polyclonal Antibody for Human HGPRT
    Polyclonal Antibody for Human HGPRT
    Polyclonal Antibody for Human HGPRT
    Polyclonal Antibody for Human HGPRT
    Monoclonal Antibody for Human HGPRT
    Monoclonal Antibody for Human HGPRT
    Monoclonal Antibody for Human HGPRT
    Monoclonal Antibody for Human HGPRT
    Monoclonal Antibody for Human HGPRT
    Monoclonal Antibody for Human HGPRT
    Monoclonal Antibody for Human HGPRT
    Protein for Human HGPRT
    Protein for Human HGPRT
    Protein for Human HGPRT
    Protein for Human HGPRT
    Protein for Human HGPRT
    Protein for Human HGPRT
    Protein for Human HGPRT

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    Precision
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    Linearity
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    References
    1. 1.
      "Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase."
      Jolly D.J. , Okayama H. , Berg P. , Esty A.C. , Filpula D. , Bohlen P. , Johnson G.G. , Shively J.E. , Hunkapillar T. , Friedmann T.
      Proc. Natl. Acad. Sci. U.S.A.80:477-481(1983) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    2. 2.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    3. 3.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
    4. 4.
      "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
      Submitted (2004-10) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
    5. 5.
      NIEHS SNPs program
      Submitted (2004-10) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    6. 6.
      "The DNA sequence of the human X chromosome."
      Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
      Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    7. 7.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    8. 8.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Brain.
    9. 9.
      "Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme."
      Wilson J.M. , Tarr G.E. , Mahoney W.C. , Kelley W.N.
      J. Biol. Chem.257:10978-10985(1982) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 2-218;CLEAVAGE OF INITIATOR METHIONINE;ACETYLATION AT ALA-2
    10. 10.
      "Fine structure of the human hypoxanthine phosphoribosyltransferase gene."
      Patel P.I. , Framson P.E. , Caskey C.T. , Chinault A.C.
      Mol. Cell. Biol.6:393-403(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-9
    11. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    12. 12.
      "The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP."
      Eads J.C. , Scapin G. , Xu Y. , Grubmeyer C. , Sacchettini J.C.
      Cell78:325-334(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.45 ANGSTROMS) IN COMPLEX WITH GMP
    13. 13.
      "The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor."
      Shi W. , Li C.M. , Tyler P.C. , Furneaux R.H. , Grubmeyer C. , Schramm V.L. , Almo S.C.
      Nat. Struct. Biol.6:588-593(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) IN COMPLEX WITH A TRANSITION-STATE ANALOG
    14. 14.
      "Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding."
      Balendiran G.K. , Molina J.A. , Xu Y. , Torres-Martinez J. , Stevens R. , Focia P.J. , Eakin A.E. , Sacchettini J.C. , Craig S.P. III
      Protein Sci.8:1023-1031(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF MUTANT ALA-69 IN COMPLEX WITH PHOSPHORIBOSYLPYROPHOSPHATE; MAGNESIUM IONS AND HYPOXANTHINE ANALOG HPP;CATALYTIC ACTIVITY;BIOPHYSICOCHEMICAL PROPERTIES;MUTAGENESIS OF LYS-69;IDENTIFICATION BY MASS SPECTROMETRY
    15. 15.
      "A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency."
      Sculley D.G. , Dawson P.A. , Emmerson B.T. , Gordon R.B.
      Hum. Genet.90:195-207(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    16. 16.
      "The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle."
      Keough D.T. , Brereton I.M. , de Jersey J. , Guddat L.W.
      J. Mol. Biol.351:170-181(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) OF APOPROTEIN;SUBUNIT
    17. 17.
      "Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics."
      Keough D.T. , Hockova D. , Holy A. , Naesens L.M. , Skinner-Adams T.S. , Jersey J. , Guddat L.W.
      J. Med. Chem.52:4391-4399(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.60 ANGSTROMS) IN COMPLEXES WITH ACYCLIC NUCLEOSIDE PHOSPHONATES;CATALYTIC ACTIVITY
    18. 18.
      "Human hypoxanthine-guanine phosphoribosyltransferase."
      Wilson J.M. , Kobayashi R. , Fox I.H. , Kelley W.N.
      J. Biol. Chem.258:6458-6460(1983) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT TORONTO GLY-51
    19. 19.
      "Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome."
      Wilson J.M. , Kelley W.N.
      J. Clin. Invest.71:1331-1335(1983) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS KINSTON ASN-194
    20. 20.
      "Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout."
      Wilson J.M. , Tarr G.E. , Kelley W.N.
      Proc. Natl. Acad. Sci. U.S.A.80:870-873(1983) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT LONDON LEU-110
    21. 21.
      "Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout."
      Wilson J.M. , Kelley W.N.
      J. Biol. Chem.259:27-30(1984) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT MUNICH ARG-104
    22. 22.
      "Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich."
      Cariello N.F. , Scott J.K. , Kat A.G. , Thilly W.G. , Keohavong P.
      Am. J. Hum. Genet.42:726-734(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT MUNICH ARG-104
    23. 23.
      "Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint)."
      Davidson B.L. , Pashmforoush M. , Kelly W.N. , Palella T.D.
      Gene63:331-336(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS FLINT LEU-74
    24. 24.
      "Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland)."
      Davidson B.L. , Palella T.D. , Kelly W.N.
      Gene68:85-91(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS MIDLAND ASP-130
    25. 25.
      "Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor)."
      Fujimori S. , Hidaka Y. , Davidson B.L. , Palella T.D. , Kelley W.N.
      Hum. Genet.79:39-43(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT MET-132
    26. 26.
      "Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects."
      Davidson B.L. , Chin S.J. , Wilson J.M. , Kelley W.N. , Palella T.D.
      J. Clin. Invest.82:2164-2167(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT LONDON LEU-110
    27. 27.
      "Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families."
      Keough D.T. , Gordon R.B. , Dejersey J. , Emmerson B.T.
      J. Inherit. Metab. Dis.11:229-238(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DIRRANBANDI AND YERONGA
    28. 28.
      "Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients."
      Igarashi T. , Minami M. , Nishida Y.
      Acta Paediatr. Jpn. Overseas Ed.31:303-313(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LNS LEU-54 AND 179-GLY-ARG-180
    29. 29.
      "Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville)."
      Davidson B.L. , Pashmforoush M. , Kelly W.N. , Palella T.D.
      J. Biol. Chem.264:520-525(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT ASHVILLE GLY-201
    30. 30.
      "Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome."
      Fujimori S. , Davidson B.L. , Kelley W.N. , Palella T.D.
      J. Clin. Invest.83:11-13(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS YALE ARG-71
    31. 31.
      "Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts."
      Davidson B.L. , Tarle S.A. , Palella T.D. , Kelley W.N.
      J. Clin. Invest.84:342-346(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARLINGEN; DETROIT; NEW BRITON AND NEW HAVEN
    32. 32.
      "Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA."
      Gibbs R.A. , Nguyen P.N. , McBride L.J. , Koepf S.M. , Caskey C.T.
      Proc. Natl. Acad. Sci. U.S.A.86:1919-1923(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS RKJ
    33. 33.
      "Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families."
      Gibbs R.A. , Nguyen P.N. , Edwards A. , Civitello A.B. , Caskey C.T.
      Genomics7:235-244(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LNS RJK LYS-45; LEU-74; ASP-130; SER-131; LYS-143; SER-161; TYR-177; ASN-194; VAL-199; ASP-204 AND TYR-206
    34. 34.
      "Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures."
      Skopek T.R. , Recio L. , Simpson D. , Dallaire L. , Melancon S.B. , Ogier H. , O'Neill J.P. , Falta M.T. , Nicklas J.A. , Albertini R.J.
      Hum. Genet.85:111-116(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS MONTREAL THR-57
    35. 35.
      "Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE)."
      Gordon R.B. , Sculley D.G. , Dawson P.A. , Beacham I.R. , Emmerson B.T.
      J. Inherit. Metab. Dis.13:692-700(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS BRISBANE ILE-168
    36. 36.
      "Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency."
      Davidson B.L. , Tarle S.A. , van Antwerp M. , Gibbs D.A. , Watts R.W.E. , Kelley W.N. , Palella T.D.
      Am. J. Hum. Genet.48:951-958(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GRAVESEND; MASHAD; HEAPEY; BANBURY; RUNCORN; FARNHAM; MARLOW AND READING
    37. 37.
      "Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects."
      Tarle S.A. , Davidson B.L. , Wu V.C. , Zidar F.J. , Seegmiller J.E. , Kelley W.N. , Palella T.D.
      Genomics10:499-501(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LNS TYR-28 DEL; VAL-50; GLU-70; LEU-74; THR-183 AND ARG-204
    38. 38.
      "Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification."
      Sculley D.G. , Dawson P.A. , Beacham I.R. , Emmerson B.T. , Gordon R.B.
      Hum. Genet.87:688-692(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PERTH; SWAN; TOOWONG AND URANGAN
    39. 39.
      "Identification of two independent Japanese mutant HPRT genes using the PCR technique."
      Yamada Y. , Goto H. , Ogasawara N.
      Adv. Exp. Med. Biol.309B:121-124(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALA-188;NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 183-193
    40. 40.
      "The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction."
      Lightfoot T. , Joshi R. , Nuki G. , Snyder F.F.
      Hum. Genet.88:695-696(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDINBURGH GLY-52;NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    41. 41.
      "Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency."
      Sege-Paterson K. , Chambers J. , Page T. , Jones O.W. , Nyhan W.L.
      Hum. Mol. Genet.1:427-432(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS;NUCLEOTIDE SEQUENCE [MRNA] OF 35-50
    42. 42.
      Lightfoot T. , Snyder F.F.
      Submitted (1994-03) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GOUT-HPRT MOOSE JAW GLU-194;NUCLEOTIDE SEQUENCE
    43. 43.
      "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."
      Burgemeister R. , Roetzer E. , Gutensohn W. , Gehrke M. , Schiel W.
      Hum. Mutat.5:341-344(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS ISAR PHE-42
    44. 44.
      "An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans."
      Fujimori S. , Sakuma R. , Yamaoka N. , Hakoda M. , Yamanaka H. , Kamatani N.
      Hum. Genet.99:8-10(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARG-61
    45. 45.
      "The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations."
      Liu G. , Aral B. , Zabot M.-T. , Kamoun P. , Ceballos-Picot I.
      Hum. Mutat. Suppl.1:S88-S90(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LNS ROANNE VAL-177
    46. 46.
      "Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families."
      Yamada Y. , Yamada K. , Sonta S. , Wakamatsu N. , Ogasawara N.
      Nucleosides Nucleotides Nucleic Acids23:1169-1172(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LNS PRO-64; PRO-65; GLU-70; CYS-72; GLN-78; PRO-147; GLU-159 AND 107-ASN--SER-110 DEL;VARIANTS GOUT-HPRT ALA-188; VAL-192 AND CYS-195
    47. 47.
      "Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations."
      Yamada Y. , Nomura N. , Yamada K. , Wakamatsu N.
      Mol. Genet. Metab.90:70-76(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LNS VAL-8 DEL; TYR-28 DEL; PRO-64; PRO-65; GLU-70; CYS-72; GLN-78; PRO-147; GLU-159; VAL-159 INS AND ALA-188;VARIANTS GOUT-HPRT PRO-124; GLY-185; VAL-192 AND CYS-195
    48. 48.
      "Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism."
      Yamada Y. , Yamada K. , Nomura N. , Yamano A. , Kimura R. , Tomida S. , Naiki M. , Wakamatsu N.
      Nucleosides Nucleotides Nucleic Acids29:291-294(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LNS TYR-44 AND LEU-74
    49. 49.
      "Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration."
      Yamada Y. , Nomura N. , Yamada K. , Kimura R. , Fukushi D. , Wakamatsu N. , Matsuda Y. , Yamauchi T. , Ueda T. , Hasegawa H. , Nakamura M. , Ichida K. , Kaneko K. , Fujimori S.
      Nucleosides Nucleotides Nucleic Acids33:218-222(2014) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN LNS;INVOLVEMENT IN GOUT-HPRT;VARIANTS GOUT-HPRT VAL-20; PHE-23 AND ARG-60;CHARACTERIZATION OF VARIANTS GOUT-HPRT VAL-20; PHE-23 AND ARG-60
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