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Volumn 7, Issue 2, 1997, Pages 161-163

Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin

Author keywords

DPD; Human polymorphism; Splice mutation; Thymine uraciluria

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; THYMINE; URACIL;

EID: 0030946626     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-199704000-00012     Document Type: Article
Times cited : (36)

References (12)
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    • Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency
    • Bakkeren JAJM, De Abreu RA, Sengers RCA, Gabreels FJM, Maas JM, Renier WO. Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency. Clin Chim Acta 1984: 140, 247-256.
    • (1984) Clin Chim Acta , vol.140 , pp. 247-256
    • Bakkeren, J.A.J.M.1    De Abreu, R.A.2    Sengers, R.C.A.3    Gabreels, F.J.M.4    Maas, J.M.5    Renier, W.O.6
  • 5
    • 0028841051 scopus 로고
    • Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes
    • Fernandez-Salguero P, Gonzalez FJ, Etienne MC, Milano G, Kimura S. Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes. Biochem Pharmacol 1995: 50, 1015-1020.
    • (1995) Biochem Pharmacol , vol.50 , pp. 1015-1020
    • Fernandez-Salguero, P.1    Gonzalez, F.J.2    Etienne, M.C.3    Milano, G.4    Kimura, S.5
  • 6
    • 0029133354 scopus 로고
    • Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency
    • Gonzalez FJ, Fernandez-Salguero P. Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. Trends Pharmacol Sci 1995: 16, 325-327.
    • (1995) Trends Pharmacol Sci , vol.16 , pp. 325-327
    • Gonzalez, F.J.1    Fernandez-Salguero, P.2
  • 7
    • 0028813120 scopus 로고
    • Human polymorphism in drug metabolism: Mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea
    • Meinsma R, Fernandez-Salguero P, van Kuilenburg AB, van Gennip AH, Gonzalez FJ. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. DNA Cell Biol 1995: 14, 1-6.
    • (1995) DNA Cell Biol , vol.14 , pp. 1-6
    • Meinsma, R.1    Fernandez-Salguero, P.2    Van Kuilenburg, A.B.3    Van Gennip, A.H.4    Gonzalez, F.J.5
  • 8
    • 0028559551 scopus 로고
    • Potential importance of dihydropyrimidine dehydrogenase (DPD) in cancer chemotherapy
    • Milano G, Etienne MC. Potential importance of dihydropyrimidine dehydrogenase (DPD) in cancer chemotherapy. Pharmacogenetics 1994: 4, 301-306.
    • (1994) Pharmacogenetics , vol.4 , pp. 301-306
    • Milano, G.1    Etienne, M.C.2
  • 9
    • 0028564702 scopus 로고
    • Assignment of the human dihydropyrimidine dehydrogenase gene (DPYD) to chromosome region Ip22 by fluorescence in situ hybridization
    • Takai S, Fernandez-Salguero P, Kimura S, Gonzalez FJ, Yamada K. Assignment of the human dihydropyrimidine dehydrogenase gene (DPYD) to chromosome region Ip22 by fluorescence in situ hybridization. Genomics 1994: 24, 613-614.
    • (1994) Genomics , vol.24 , pp. 613-614
    • Takai, S.1    Fernandez-Salguero, P.2    Kimura, S.3    Gonzalez, F.J.4    Yamada, K.5
  • 10
    • 0029792709 scopus 로고    scopus 로고
    • A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
    • Vreken P, Van Kuilenburg ABP, Meinsma R, Smit GPA, Bakker HD, De Abreu RA, van Gennip AH. A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis 1996: 19, 645-654.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 645-654
    • Vreken, P.1    Van Kuilenburg, A.B.P.2    Meinsma, R.3    Smit, G.P.A.4    Bakker, H.D.5    De Abreu, R.A.6    Van Gennip, A.H.7
  • 12


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.