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4. Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome. Marcus S; Christensen E; Malm G Hum Mutat; 1993; 2(6):473-7. PubMed ID: 8111415 [TBL] [Abstract][Full Text] [Related]
5. Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese. Yamada Y; Nomura N; Kitoh H; Wakamatsu N; Ogasawara N Adv Exp Med Biol; 2000; 486():29-33. PubMed ID: 11783502 [No Abstract] [Full Text] [Related]
7. Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome. Shimizu N; Konomi H; Arima M; Aoki T Acta Paediatr Jpn; 1996 Feb; 38(1):36-40. PubMed ID: 8992857 [TBL] [Abstract][Full Text] [Related]
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9. 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]
10. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations. Yamada Y; Nomura N; Yamada K; Wakamatsu N; Kaneko K; Fujimori S Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):570-4. PubMed ID: 18600506 [TBL] [Abstract][Full Text] [Related]
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14. Lesch Nyhan syndrome: a novel complex mutation in a Tunisian child. Rebai I; Kraoua I; Benrhouma H; Rouissi A; Turki I; Ceballos-Picot I; Gouider-Khouja N Brain Dev; 2014 Nov; 36(10):921-3. PubMed ID: 24503445 [TBL] [Abstract][Full Text] [Related]
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16. What syndrome is this? Lesch-Nyhan syndrome. Schepis C; Greco D; Siragusa M; Romano C Pediatr Dermatol; 1996; 13(2):169-70. PubMed ID: 9122079 [No Abstract] [Full Text] [Related]
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