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44. Normal HPRT coding region in complete and partial HPRT deficiency. García MG; Torres RJ; Prior C; Puig JG Mol Genet Metab; 2008 Jun; 94(2):167-72. PubMed ID: 18316217 [TBL] [Abstract][Full Text] [Related]
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46. [Lesch-Nyhan syndrome without self-mutilation: biochemical and morphological studies on blood cells (author's transl)]. Schneider W; Morgenstern E; Schindera I Dtsch Med Wochenschr; 1976 Jan; 101(5):167-72. PubMed ID: 1248389 [TBL] [Abstract][Full Text] [Related]
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50. 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 [TBL] [Abstract][Full Text] [Related]
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52. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. de Gemmis P; Anesi L; Lorenzetto E; Gioachini I; Fortunati E; Zandonà G; Fanin E; Fairbanks L; Andrighetto G; Parmigiani P; Dolcetta D; Nyhan WL; Hladnik U Mutat Res; 2010 Oct; 692(1-2):1-5. PubMed ID: 20638392 [TBL] [Abstract][Full Text] [Related]
53. Novel mutation in HPRT1 causing a splicing error with multiple variations. Baba S; Saito T; Yamada Y; Takeshita E; Nomura N; Yamada K; Wakamatsu N; Sasaki M Nucleosides Nucleotides Nucleic Acids; 2017 Jan; 36(1):1-6. PubMed ID: 27754763 [TBL] [Abstract][Full Text] [Related]
54. An unexpected affected female patient in a classical Lesch-Nyhan family. De Gregorio L; Nyhan WL; Serafin E; Chamoles NA Mol Genet Metab; 2000 Mar; 69(3):263-8. PubMed ID: 10767182 [TBL] [Abstract][Full Text] [Related]
55. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. De Gregorio L; Jinnah HA; Harris JC; Nyhan WL; Schretlen DJ; Trombley LM; O'Neill JP Mol Genet Metab; 2005 May; 85(1):70-7. PubMed ID: 15862283 [TBL] [Abstract][Full Text] [Related]
56. Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. Rinat C; Zoref-Shani E; Ben-Neriah Z; Bromberg Y; Becker-Cohen R; Feinstein S; Sperling O; Frishberg Y Mol Genet Metab; 2006 Mar; 87(3):249-52. PubMed ID: 16343967 [TBL] [Abstract][Full Text] [Related]
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58. Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients. Laróvere LE; O'Neill JP; Randall M; Fairbanks LD; Guelbert N; Czornyj L; de Kremer RD Nucleosides Nucleotides Nucleic Acids; 2007; 26(3):255-8. PubMed ID: 17454734 [TBL] [Abstract][Full Text] [Related]
59. Lesch-Nyhan disease: clinical experience with nineteen patients. Christie R; Bay C; Kaufman IA; Bakay B; Borden M; Nyhan WL Dev Med Child Neurol; 1982 Jun; 24(3):293-306. PubMed ID: 7095300 [TBL] [Abstract][Full Text] [Related]
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