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133 related items for PubMed ID: 1551676

  • 1. The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.
    Lightfoot T, Joshi R, Nuki G, Snyder FF.
    Hum Genet; 1992 Mar; 88(6):695-6. PubMed ID: 1551676
    [Abstract] [Full Text] [Related]

  • 2. Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
    Sculley DG, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.
    Hum Genet; 1991 Oct; 87(6):688-92. PubMed ID: 1937471
    [Abstract] [Full Text] [Related]

  • 3. Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
    Davidson BL, Chin SJ, Wilson JM, Kelley WN, Palella TD.
    J Clin Invest; 1988 Dec; 82(6):2164-7. PubMed ID: 3198771
    [Abstract] [Full Text] [Related]

  • 4. 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.
    Fujimori S, Tagaya T, Kamatani N, Akaoka I.
    Hum Genet; 1992 Dec; 90(4):385-8. PubMed ID: 1282899
    [Abstract] [Full Text] [Related]

  • 5. Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.
    Lee WJ, Lee HM, Chi CS, Yang MT, Lin HY, Lin WH.
    Zhonghua Yi Xue Za Zhi (Taipei); 1995 Dec; 56(6):359-66. PubMed ID: 8851475
    [Abstract] [Full Text] [Related]

  • 6. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
    Tohyama J, Nanba E, Ohno K.
    Hum Genet; 1994 Feb; 93(2):175-81. PubMed ID: 8112742
    [Abstract] [Full Text] [Related]

  • 7. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
    Davidson BL, Tarlé SA, Palella TD, Kelley WN.
    J Clin Invest; 1989 Jul; 84(1):342-6. PubMed ID: 2738157
    [Abstract] [Full Text] [Related]

  • 8. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
    Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL.
    Hum Mol Genet; 1992 Sep; 1(6):427-32. PubMed ID: 1301916
    [Abstract] [Full Text] [Related]

  • 9. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
    Aral B, de Saint Basile G, Al-Garawi S, Kamoun P, Ceballos-Picot I.
    Hum Mutat; 1996 Sep; 7(1):52-8. PubMed ID: 8664901
    [Abstract] [Full Text] [Related]

  • 10. Induced reversion of a spontaneous point mutation within the Chinese hamster HPRT gene to the wild-type sequence.
    Rossiter BJ, Muzny DM, Hampson I, Caskey CT, Fox M.
    Mutagenesis; 1990 Nov; 5(6):605-8. PubMed ID: 1702179
    [Abstract] [Full Text] [Related]

  • 11. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
    Yamada Y, Goto H, Suzumori K, Adachi R, Ogasawara N.
    Hum Genet; 1992 Dec; 90(4):379-84. PubMed ID: 1483694
    [Abstract] [Full Text] [Related]

  • 12. [A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene].
    Maruta K, Ohi T, Yamada Y, Goto H, Ogasawara N, Matsukura S.
    No To Shinkei; 1997 Nov; 49(11):1009-13. PubMed ID: 9396032
    [Abstract] [Full Text] [Related]

  • 13. Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
    Fujimori S, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.
    Hum Genet; 1990 Apr; 84(5):483-6. PubMed ID: 2323782
    [Abstract] [Full Text] [Related]

  • 14. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings--a new mutation.
    Choi Y, Koo JW, Ha IS, Yamada Y, Goto H, Ogasawara N.
    Pediatr Nephrol; 1993 Dec; 7(6):739-40. PubMed ID: 8130095
    [Abstract] [Full Text] [Related]

  • 15. Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
    Davidson BL, Pashmforoush M, Kelley WN, Palella TD.
    J Biol Chem; 1989 Jan 05; 264(1):520-5. PubMed ID: 2909537
    [Abstract] [Full Text] [Related]

  • 16. Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
    Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN.
    J Clin Invest; 1983 Sep 05; 72(3):767-72. PubMed ID: 6309910
    [Abstract] [Full Text] [Related]

  • 17. Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
    Bouwens-Rombouts AG, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.
    Hum Genet; 1993 Jun 05; 91(5):451-4. PubMed ID: 8314557
    [Abstract] [Full Text] [Related]

  • 18. 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 Acids; 2004 Oct 05; 23(8-9):1169-72. PubMed ID: 15571223
    [Abstract] [Full Text] [Related]

  • 19. Expression of normal and variant human hypoxanthine-guanine phosphoribosyltransferase in E. coli.
    Davidson BL, Roessler BJ, Palella TD.
    Adv Exp Med Biol; 1991 Oct 05; 309B():105-8. PubMed ID: 1781351
    [Abstract] [Full Text] [Related]

  • 20. Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).
    Fujimori S, Davidson BL, Kelley WN, Palella TD.
    Adv Exp Med Biol; 1989 Oct 05; 253A():135-8. PubMed ID: 2624182
    [Abstract] [Full Text] [Related]

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