281 related articles for article (PubMed ID: 15862284)
1. Normal HPRT coding region in a male with gout due to HPRT deficiency.
Dawson PA; Gordon RB; Keough DT; Emmerson BT
Mol Genet Metab; 2005 May; 85(1):78-80. PubMed ID: 15862284
[TBL] [Abstract][Full Text] [Related]
2. Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.
Wu CH; Lai HM; Yang MC; Liaw CC; Chang SJ; Ko YC; Chen CJ
J Rheumatol; 2007 Apr; 34(4):794-7. PubMed ID: 17309125
[TBL] [Abstract][Full Text] [Related]
3. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
Yamada Y
Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
Tohyama J; Nanba E; Ohno K
Hum Genet; 1994 Feb; 93(2):175-81. PubMed ID: 8112742
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
Yamada Y; Nomura N; Yamada K; Wakamatsu N
Mol Genet Metab; 2007 Jan; 90(1):70-6. PubMed ID: 17027311
[TBL] [Abstract][Full Text] [Related]
9. Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou) from a Taiwanese aboriginal family with severe gout.
Chang SJ; Chang JG; Chen CJ; Wang JC; Ou TT; Chang KL; Ko YC
J Rheumatol; 1999 Aug; 26(8):1802-7. PubMed ID: 10451080
[TBL] [Abstract][Full Text] [Related]
10. Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Saigal R; Chakraborty A; Yadav RN; Prashant RK
J Assoc Physicians India; 2006 Jan; 54():49-52. PubMed ID: 16649740
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.
Kostalova E; Pavelka K; Vlaskova H; Musalkova D; Stiburkova B
Clin Chim Acta; 2015 Feb; 440():214-7. PubMed ID: 25476133
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
Hladnik U; Nyhan WL; Bertelli M
Arch Neurol; 2008 Sep; 65(9):1240-3. PubMed ID: 18779430
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
Yamada Y; Goto H; Suzumori K; Adachi R; Ogasawara N
Hum Genet; 1992 Dec; 90(4):379-84. PubMed ID: 1483694
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y; Yamada K; Sonta S; Wakamatsu N; Ogasawara N
Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1169-72. PubMed ID: 15571223
[TBL] [Abstract][Full Text] [Related]
19. HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
Cossu A; Orrù S; Jacomelli G; Carcassi C; Contu L; Sestini S; Corradi MR; Pompucci G; Carcassi A; Micheli V
Biochim Biophys Acta; 2006 Jan; 1762(1):29-33. PubMed ID: 16216473
[TBL] [Abstract][Full Text] [Related]
20. Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
Garcia MG; Torres RJ; Puig JG
Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):301-5. PubMed ID: 20544511
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
