These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 3265398)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. [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]  

  • 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. 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]  

  • 12. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
    Aral B; de Saint Basile G; Al-Garawi S; Kamoun P; Ceballos-Picot I
    Hum Mutat; 1996; 7(1):52-8. PubMed ID: 8664901
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.
    Tvrdik T; Marcus S; Hou SM; Fält S; Noori P; Podlutskaja N; Hanefeld F; Strømme P; Lambert B
    Hum Genet; 1998 Sep; 103(3):311-8. PubMed ID: 9799086
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome.
    Zoref-Shani E; Bromberg Y; Hirsch J; Feinstein S; Frishberg Y; Sperling O
    Mol Genet Metab; 2003 Feb; 78(2):158-61. PubMed ID: 12618088
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
    Wilson JM; Kelley WN
    J Clin Invest; 1983 May; 71(5):1331-5. PubMed ID: 6853716
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA.
    Gordon RB; Dawson PA; Sculley DG; Emmerson BT; Caskey CT; Gibbs RA
    Gene; 1991 Dec; 108(2):299-304. PubMed ID: 1840549
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
    Sculley DG; Dawson PA; Beacham IR; Emmerson BT; Gordon RB
    Hum Genet; 1991 Oct; 87(6):688-92. PubMed ID: 1937471
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.