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3. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome. Rijksen G; Staal GE; van der Vlist MJ; Beemer Fa; Troost J; Gutensohn W; van Laarhoven JP; de Bruyn CH Hum Genet; 1981; 57(1):39-47. PubMed ID: 7262868 [No Abstract] [Full Text] [Related]
4. Lesch-Nyhan syndrome: mutation, prevention, and therapy. Caskey CT Res Publ Assoc Res Nerv Ment Dis; 1987; 65():187-94. PubMed ID: 3330841 [No Abstract] [Full Text] [Related]
5. HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency. Strauss M; Lübbe L; Geissler E Hum Genet; 1981; 57(2):185-8. PubMed ID: 7228031 [TBL] [Abstract][Full Text] [Related]
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8. The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations. Liu G; Aral B; Zabot MT; Kamoun P; Ceballos-Picot I Hum Mutat; 1998; Suppl 1():S88-90. PubMed ID: 9452051 [No Abstract] [Full Text] [Related]
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10. 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]
11. A female case of the Leach-Nyhan syndrome. Hara K; Kashiwamata S; Ogasawara N; Ohishi H; Natsume R; Yamanaka T; Hakamada S; Miyazaki S; Watanabe K Tohoku J Exp Med; 1982 Jul; 137(3):275-82. PubMed ID: 7112549 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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 [TBL] [Abstract][Full Text] [Related]
16. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants). Seegmiller JE Adv Hum Genet; 1976; 6():75-163. PubMed ID: 779428 [No Abstract] [Full Text] [Related]
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18. Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients. Itiaba K; Melançon SB; Dallaire L; Crawhall JC Biochem Med; 1978 Apr; 19(2):252-9. PubMed ID: 656085 [No Abstract] [Full Text] [Related]
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