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8. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Wu CL; Melton DW Nat Genet; 1993 Mar; 3(3):235-40. PubMed ID: 8485579 [TBL] [Abstract][Full Text] [Related]
10. Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. Gucev Z; Koceva S; Marinaki A; Fairbanks L; Kirovski I; Tasic V Clin Genet; 2010 Sep; 78(3):296-7. PubMed ID: 20695874 [No Abstract] [Full Text] [Related]
11. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Nguyen KV; Naviaux RK; Paik KK; Nyhan WL Mol Genet Metab; 2012 Aug; 106(4):498-501. PubMed ID: 22766437 [TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. Taniguchi A; Yamada Y; Hakoda M; Sekita C; Kawamoto M; Kaneko H; Yamanaka H Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1266-71. PubMed ID: 22132985 [TBL] [Abstract][Full Text] [Related]
13. Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome. Mizunuma M; Fujimori S; Kaneko K; Kamatani N Adv Exp Med Biol; 2000; 486():23-7. PubMed ID: 11783490 [No Abstract] [Full Text] [Related]
15. [Lesch-Nyhan disease. Study of a new patient (author's transl)]. Carmena R; Nyhan WL; Ascaso J; Bakay B; Soriano J; Tebar J Med Clin (Barc); 1982 Jan; 78(2):59-64. PubMed ID: 7070131 [No Abstract] [Full Text] [Related]
16. 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 [TBL] [Abstract][Full Text] [Related]
17. [Complete and partial deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]. Yamada Y Nihon Rinsho; 2003 Jan; 61 Suppl 1():288-93. PubMed ID: 12629733 [No Abstract] [Full Text] [Related]
19. Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme. Kelley WN; Wilson JM Trans Am Clin Climatol Assoc; 1983; 94():91-9. PubMed ID: 7186238 [No Abstract] [Full Text] [Related]
20. Animal models point the way to human clinical trials. Kolberg R Science; 1992 May; 256(5058):772-3. PubMed ID: 1589756 [No Abstract] [Full Text] [Related] [Next] [New Search]