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Journal Abstract Search

189 related items for PubMed ID: 2638525

  • 1. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome.
    Edwards A, Gibbs RA, Nguyen PN, Ansorge W, Caskey CT.
    Trans Assoc Am Physicians; 1989; 102():185-94. PubMed ID: 2638525
    [No Abstract] [Full Text] [Related]

  • 2. Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.
    Mansfield ES, Blasband A, Kronick MN, Wrabetz L, Kaplan P, Rappaport E, Sartore M, Parrella T, Surrey S, Fortina P.
    Mol Cell Probes; 1993 Aug; 7(4):311-24. PubMed ID: 8232348
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  • 3. Screening for molecular pathologies in Lesch-Nyhan syndrome.
    Boyd M, Lanyon WG, Connor JM.
    Hum Mutat; 1993 Aug; 2(2):127-30. PubMed ID: 8318989
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  • 4. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
    Mizunuma M, Fujimori S, Ogino H, Ueno T, Inoue H, Kamatani N.
    Hum Mutat; 2001 Nov; 18(5):435-43. PubMed ID: 11668636
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  • 5. Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.
    Torres RJ, Garcia MG, Puig JG.
    Gene; 2012 Dec 15; 511(2):306-7. PubMed ID: 23046577
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  • 12. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
    Kim KJ, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.
    J Korean Med Sci; 1997 Aug 15; 12(4):332-9. PubMed ID: 9288634
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  • 19. Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome.
    Yamada Y, Goto H, Suzumori K, Ogasawara N.
    Adv Exp Med Biol; 1998 Aug 15; 431():211-4. PubMed ID: 9598061
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  • 20. Molecular analysis of mutation at the human hprt locus.
    Lambert B, Andersson B, He SM, Hellgren D, Marcus S, Steen AM.
    Acta Physiol Scand Suppl; 1990 Aug 15; 592():85-92. PubMed ID: 2267946
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