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2. Molecular genetics of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. Wilson JM; Kelley WN Arch Intern Med; 1985 Oct; 145(10):1895-1900. PubMed ID: 3899038 [No Abstract] [Full Text] [Related]
3. Mutational diversity at the human HPRT locus. Patel PI; Yang TP; Stout JT; Konecki DS; Chinault AC; Caskey CT Prog Clin Biol Res; 1986; 209A():457-63. PubMed ID: 3749060 [No Abstract] [Full Text] [Related]
4. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Kuehn MR; Bradley A; Robertson EJ; Evans MJ Nature; 1987 Mar 19-25; 326(6110):295-8. PubMed ID: 3029599 [TBL] [Abstract][Full Text] [Related]
5. Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale). Fujimori S; Davidson BL; Kelley WN; Palella TD Adv Exp Med Biol; 1989; 253A():135-8. PubMed ID: 2624182 [TBL] [Abstract][Full Text] [Related]
6. HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene. Zamora A; Escárcega RO; Vazquez R; Zamora A; O'Neill JP Arch Med Res; 2007 May; 38(4):460-2. PubMed ID: 17416296 [TBL] [Abstract][Full Text] [Related]
7. [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; 102(18):681-7. PubMed ID: 8028417 [TBL] [Abstract][Full Text] [Related]
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. 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]
11. 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]
12. HPRT gene mutations in a female Lesch-Nyhan patient. Ogasawara N; Yamada Y; Goto H Adv Exp Med Biol; 1991; 309B():109-12. PubMed ID: 1781352 [No Abstract] [Full Text] [Related]
13. [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 [TBL] [Abstract][Full Text] [Related]
16. Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes. Wilson JM; Young AB; Kelley WN N Engl J Med; 1983 Oct; 309(15):900-10. PubMed ID: 6136913 [No Abstract] [Full Text] [Related]
17. 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]
18. Molecular analysis of mutation at the human hprt locus. Lambert B; Andersson B; He SM; Hellgren D; Marcus S; Steen AM Acta Physiol Scand Suppl; 1990; 592():85-92. PubMed ID: 2267946 [No Abstract] [Full Text] [Related]
19. Molecular genetics of the HPRT-deficiency syndromes. Wilson JM; Kelley WN Hosp Pract (Off Ed); 1984 May; 19(5):81-9, 93-7, 100. PubMed ID: 6425346 [No Abstract] [Full Text] [Related]
20. The role of the HPRT gene in human disease. Jolly DJ Horiz Biochem Biophys; 1986; 8():123-68. PubMed ID: 2875930 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]