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Journal Abstract Search

523 related items for PubMed ID: 8976112

  • 1. [Complete and partial deficiency of HPRT].
    Ogasawara N.
    Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
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  • 2. [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
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  • 5. Partial HPRT deficiency phenotype and incomplete splicing mutation.
    Torres RJ, Garcia MG, Puig JG.
    Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):295-300. PubMed ID: 20544510
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  • 6. 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
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  • 13. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
    Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P.
    Medicine (Baltimore); 2001 Mar; 80(2):102-12. PubMed ID: 11307586
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  • 15. Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome.
    Jinnah HA, Langlais PJ, Friedmann T.
    J Pharmacol Exp Ther; 1992 Nov; 263(2):596-607. PubMed ID: 1432691
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  • 16. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].
    García Puig J, Mateos FA, Jiménez ML, Arcas J, Miranda ME, Oríz Vázquez J.
    Med Clin (Barc); 1994 May 14; 102(18):681-7. PubMed ID: 8028417
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  • 17. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
    Hooper M, Hardy K, Handyside A, Hunter S, Monk M.
    Nature; 1994 May 14; 326(6110):292-5. PubMed ID: 3821905
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  • 18. The spectrum of mutations causing HPRT deficiency: an update.
    Jinnah HA, Harris JC, Nyhan WL, O'Neill JP.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct 14; 23(8-9):1153-60. PubMed ID: 15571220
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