메뉴 건너뛰기




Volumn 17, Issue 7, 2003, Pages 1422-1424

A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with all [6]

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HEMOGLOBIN; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE;

EID: 0038103074     PISSN: 08876924     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.leu.2402981     Document Type: Letter
Times cited : (49)

References (12)
  • 1
    • 0034034158 scopus 로고    scopus 로고
    • Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia
    • McLeod HL, Krynetski EY, Relling MV, Evans WE. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia 2000; 14: 567-572.
    • (2000) Leukemia , vol.14 , pp. 567-572
    • McLeod, H.L.1    Krynetski, E.Y.2    Relling, M.V.3    Evans, W.E.4
  • 2
    • 0032572912 scopus 로고    scopus 로고
    • Acute lymphoblastic leukemia
    • Pui CH, Evans WE. Acute lymphoblastic leukemia. N Engl J Med 1998; 339: 605-615.
    • (1998) N. Engl. J. Med. , vol.339 , pp. 605-615
    • Pui, C.H.1    Evans, W.E.2
  • 3
    • 0036668038 scopus 로고    scopus 로고
    • Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: Impact of thiopurine S-methyltransferase polymorphism
    • Schwab M, Schaffeler E, Marx C, Fischer C, Lang T, Behrens C et al. Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. Pharmacogenetics 2002; 12: 429-436.
    • (2002) Pharmacogenetics , vol.12 , pp. 429-436
    • Schwab, M.1    Schaffeler, E.2    Marx, C.3    Fischer, C.4    Lang, T.5    Behrens, C.6
  • 4
    • 0035871560 scopus 로고    scopus 로고
    • Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine
    • Evans WE, Hon YY, Bomgaars L, Coutre S, Holdsworth M, Janco R et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol 2001; 19: 2293-2301.
    • (2001) J. Clin. Oncol. , vol.19 , pp. 2293-2301
    • Evans, W.E.1    Hon, Y.Y.2    Bomgaars, L.3    Coutre, S.4    Holdsworth, M.5    Janco, R.6
  • 5
    • 0035431092 scopus 로고    scopus 로고
    • Shortcoming in the diagnosis of TPMT deficiency in a patient with Crohn's disease using phenotyping only
    • Schwab M, Schaeffeler E, Marx C, Zanger U, Aulitzky W, Eichelbaum M. Shortcoming in the diagnosis of TPMT deficiency in a patient with Crohn's disease using phenotyping only. Gastroenterology 2001; 121: 498-499.
    • (2001) Gastroenterology , vol.121 , pp. 498-499
    • Schwab, M.1    Schaeffeler, E.2    Marx, C.3    Zanger, U.4    Aulitzky, W.5    Eichelbaum, M.6
  • 6
    • 0030934850 scopus 로고    scopus 로고
    • Molecular diagnosis of thiopurine S-methyltransferase deficiency: Genetic basis for azathioprine and mercaptopurine intolerance
    • Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui CH et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med. 1997; 126: 608-614.
    • (1997) Ann. Intern. Med. , vol.126 , pp. 608-614
    • Yates, C.R.1    Krynetski, E.Y.2    Loennechen, T.3    Fessing, M.Y.4    Tai, H.L.5    Pui, C.H.6
  • 7
    • 0034745462 scopus 로고    scopus 로고
    • High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC
    • Schaeffeler E, Lang T, Zanger UM, Eichelbaum M, Schwab M. High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC. Clin Chem 2001; 47: 548-555.
    • (2001) Clin. Chem. , vol.47 , pp. 548-555
    • Schaeffeler, E.1    Lang, T.2    Zanger, U.M.3    Eichelbaum, M.4    Schwab, M.5
  • 9
    • 0017880983 scopus 로고
    • Human erythrocyte thiopurine methyltransferase: Radiochemical microassay and biochemical properties
    • Weinshilboum RM, Raymond FA, Pazmino PA. Human erythrocyte thiopurine methyltransferase: radiochemical microassay and biochemical properties. Clin Chim Acta 1978; 85: 323-333.
    • (1978) Clin. Chim. Acta , vol.85 , pp. 323-333
    • Weinshilboum, R.M.1    Raymond, F.A.2    Pazmino, P.A.3
  • 10
    • 0018822866 scopus 로고
    • Mercaptopurine pharmacogenetics: Monogenic inheritance of erythrocyte thiopurine methyltransferase activity
    • Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32: 651-662.
    • (1980) Am. J. Hum. Genet. , vol.32 , pp. 651-662
    • Weinshilboum, R.M.1    Sladek, S.L.2
  • 11
    • 0030986251 scopus 로고    scopus 로고
    • Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): Mechanisms for the genetic polymorphism of TPMT activity
    • Tai HL, Krynetski EY, Schuetz EG, Yanishevski Y, Evans WE. Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity. Proc Natl Acad Sci USA 1997; 94: 6444-6449.
    • (1997) Proc. Natl. Acad. Sci. USA. , vol.94 , pp. 6444-6449
    • Tai, H.L.1    Krynetski, E.Y.2    Schuetz, E.G.3    Yanishevski, Y.4    Evans, W.E.5
  • 12
    • 0036784123 scopus 로고    scopus 로고
    • Thiopurine methyltransferase phenotype and genotype in relation to azathioprine therapy in autoimmune hepatitis
    • Langley P, Underhill J, Tredger J, Norris S, McFarlane I. Thiopurine methyltransferase phenotype and genotype in relation to azathioprine therapy in autoimmune hepatitis. J Hepatol 2002; 37: 441-447.
    • (2002) J. Hepatol. , vol.37 , pp. 441-447
    • Langley, P.1    Underhill, J.2    Tredger, J.3    Norris, S.4    McFarlane, I.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.