BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 1985452)

  • 1. A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
    Mimori A; Hidaka Y; Wu VC; Tarlé SA; Kamatani N; Kelley WN; Pallela TD
    Am J Hum Genet; 1991 Jan; 48(1):103-7. PubMed ID: 1985452
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
    Kamatani N; Kuroshima S; Yamanaka H; Nakashe S; Take H; Hakoda M
    Hum Genet; 1990 Oct; 85(5):500-4. PubMed ID: 2227934
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
    Hidaka Y; Tarlé SA; Fujimori S; Kamatani N; Kelley WN; Palella TD
    J Clin Invest; 1988 Mar; 81(3):945-50. PubMed ID: 3343350
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
    Takeuchi H; Kaneko Y; Fujita J; Yoshida O
    J Urol; 1993 Apr; 149(4):824-6. PubMed ID: 8455250
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.
    Kamatani N; Kuroshima S; Hakoda M; Palella TD; Hidaka Y
    Hum Genet; 1990 Oct; 85(6):600-4. PubMed ID: 2227951
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method.
    Kawaguchi R; Higashimoto H; Hikiji K; Hakoda M; Kamatani N
    Clin Chim Acta; 1991 Dec; 203(2-3):183-90. PubMed ID: 1777979
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Adenine phosphoribosyltransferase(APRT) deficiency].
    Kamatani N
    Nihon Rinsho; 1996 Dec; 54(12):3321-7. PubMed ID: 8976113
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
    Kamatani N; Hakoda M; Otsuka S; Yoshikawa H; Kashiwazaki S
    J Clin Invest; 1992 Jul; 90(1):130-5. PubMed ID: 1353080
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Adenine phosphoribosyltransferase deficiency and its purine metabolism].
    Taniguchi A
    Nihon Rinsho; 2008 Apr; 66(4):784-8. PubMed ID: 18409532
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.
    Kamatani N; Terai C; Kim SY; Chen CL; Yamanaka H; Hakoda M; Totokawa S; Kashiwazaki S
    Hum Genet; 1996 Nov; 98(5):596-600. PubMed ID: 8882882
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.
    Kamatani N; Kuroshima S; Terai C; Kawai K; Mikanagi K; Nishioka K
    Hum Genet; 1987 Jun; 76(2):148-52. PubMed ID: 3610146
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.
    Kaneko Y; Takeuchi H; Takenawa J; Nakayama H; Fujita J; Yoshida O
    Urol Res; 1993 Mar; 21(2):89-93. PubMed ID: 8503153
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
    Iwaki T; Kusaka T; Ohashi I; Nishida T; Imai T; Itoh S
    Pediatr Nephrol; 2010 Jun; 25(6):1173-6. PubMed ID: 20101413
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients].
    Higashimoto H; Kawaguchi R; Hikiji K
    Rinsho Byori; 1992 Oct; 40(10):1067-72. PubMed ID: 1307610
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.
    Higashimoto H; Ouchi A; Kawaguchi R
    Clin Chim Acta; 1995 Jan; 234(1-2):1-10. PubMed ID: 7758207
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis].
    Kaneko Y; Takeuchi H; Takenawa J; Yoshida O; Takano S; Fujita J
    Hinyokika Kiyo; 1992 Jun; 38(6):641-5. PubMed ID: 1632317
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Human adenine phosphoribosyltransferase (APRT) deficiency: single mutant allele common to the Japanese.
    Hidaka Y; Tarle SA; Kamatani N; Kelley WN; Palella TD
    Adv Exp Med Biol; 1989; 253A():43-9. PubMed ID: 2624223
    [No Abstract]   [Full Text] [Related]  

  • 18. Mutational basis of adenine phosphoribosyltransferase deficiency.
    Sahota A; Chen J; Stambrook PJ; Tischfield JA
    Adv Exp Med Biol; 1991; 309B():73-6. PubMed ID: 1781410
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
    Ikeda H; Watanabe T; Fujimoto Y; Yamamoto S; Hosaki I; Isoyama K; Kawano S; Chiba M
    Hinyokika Kiyo; 2011 Jan; 57(1):15-9. PubMed ID: 21304254
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
    Ikeda H; Watanabe T; Fujimoto Y; Yamamoto S; Hosaki I; Isoyama K; Kawano S; Chiba M
    Hinyokika Kiyo; 2012 Jul; 58(7):15-9. PubMed ID: 22988602
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.