295 related articles for article (PubMed ID: 2910902)
1. Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
Fujimori S; Davidson BL; Kelley WN; Palella TD
J Clin Invest; 1989 Jan; 83(1):11-3. PubMed ID: 2910902
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. [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]
6. Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
Davidson BL; Palella TD; Kelley WN
Gene; 1988 Aug; 68(1):85-91. PubMed ID: 3265398
[TBL] [Abstract][Full Text] [Related]
7. A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.
Fujimori S; Tagaya T; Kamatani N; Akaoka I
Hum Genet; 1992 Dec; 90(4):385-8. PubMed ID: 1282899
[TBL] [Abstract][Full Text] [Related]
8. A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA).
Yamada Y; Goto H; Shiomi M; Yamamoto T; Higashino K; Ogasawara N
Jpn J Hum Genet; 1996 Dec; 41(4):427-30. PubMed ID: 9088115
[TBL] [Abstract][Full Text] [Related]
9. HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
Stur E; Reis RS; Agostini LP; Silva-Conforti AM; Louro ID
Genet Mol Res; 2016 Jun; 15(2):. PubMed ID: 27420966
[TBL] [Abstract][Full Text] [Related]
10. Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
Fujimori S; Kamatani N; Nishida Y; Ogasawara N; Akaoka I
Hum Genet; 1990 Apr; 84(5):483-6. PubMed ID: 2323782
[TBL] [Abstract][Full Text] [Related]
11. Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
Davidson BL; Pashmforoush M; Kelley WN; Palella TD
Gene; 1988 Mar; 63(2):331-6. PubMed ID: 3384338
[TBL] [Abstract][Full Text] [Related]
12. Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
Bouwens-Rombouts AG; van den Boogaard MJ; Puig JG; Mateos FA; Hennekam RC; Tilanus MG
Hum Genet; 1993 Jun; 91(5):451-4. PubMed ID: 8314557
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
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. Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.
Yamada Y; Suzumori K; Tanemura M; Goto H; Ogasawara N
Clin Genet; 1996 Sep; 50(3):164-7. PubMed ID: 8946118
[TBL] [Abstract][Full Text] [Related]
17. Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.
Skopek TR; Recio L; Simpson D; Dallaire L; Melancon SB; Ogier H; O'Neill JP; Falta MT; Nicklas JA; Albertini RJ
Hum Genet; 1990 Jun; 85(1):111-6. PubMed ID: 2358296
[TBL] [Abstract][Full Text] [Related]
18. Identification of novel mutations in the human HPRT gene.
Nguyen KV; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2013; 32(3):155-60. PubMed ID: 23473102
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
Kim KJ; Yamada Y; Suzumori K; Choi Y; Yang SW; Cheong HI; Hwang YS; Goto H; Ogasawara N
J Korean Med Sci; 1997 Aug; 12(4):332-9. PubMed ID: 9288634
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]