239 related articles for article (PubMed ID: 2894305)
1. Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.
Silverman LJ; Kelley WN; Palella TD
Enzyme; 1987; 38(1-4):36-44. PubMed ID: 2894305
[TBL] [Abstract][Full Text] [Related]
2. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
Yamada Y
Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
[TBL] [Abstract][Full Text] [Related]
3. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Sculley DG; Dawson PA; Emmerson BT; Gordon RB
Hum Genet; 1992 Nov; 90(3):195-207. PubMed ID: 1487231
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
Igarashi T; Minami M; Nishida Y
Acta Paediatr Jpn; 1989 Jun; 31(3):303-13. PubMed ID: 2572141
[TBL] [Abstract][Full Text] [Related]
7. [Complete and partial deficiency of HPRT].
Ogasawara N
Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Puig JG; Torres RJ; Mateos FA; Ramos TH; Arcas JM; Buño AS; O'Neill P
Medicine (Baltimore); 2001 Mar; 80(2):102-12. PubMed ID: 11307586
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. 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]
13. Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Davidson BL; Tarlé SA; Van Antwerp M; Gibbs DA; Watts RW; Kelley WN; Palella TD
Am J Hum Genet; 1991 May; 48(5):951-8. PubMed ID: 2018042
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Sapag A; Frischling E; Laborde H
Joint Bone Spine; 2013 Jan; 80(1):93-5. PubMed ID: 22999896
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Partial HPRT deficiency phenotype and incomplete splicing mutation.
Torres RJ; Garcia MG; Puig JG
Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):295-300. PubMed ID: 20544510
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Cossu A; Micheli V; Jacomelli G; Carcassi A
Clin Exp Rheumatol; 2002; 20(6):851-3. PubMed ID: 12508781
[TBL] [Abstract][Full Text] [Related]
20. Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.
Gordon RB; Emmerson BT; Stout JT; Caskey CT
Aust N Z J Med; 1987 Aug; 17(4):424-9. PubMed ID: 3435320
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
