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Volumn 431, Issue , 1998, Pages 341-346

Dihydropyrimidine dehydrogenase deficiency: Identification of two novel mutations and expression of missense mutations in E. coli

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE;

EID: 0031807488     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-5381-6_68     Document Type: Conference Paper
Times cited : (10)

References (15)
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    • Van Gennip AH, Van-Bree-Blom EJ, Wadman SK, De Bree PK, Duran M, Beemer FA (1981) Liquid chromatography of urnary pyrimidines for the evaluation of primary and secondary abnormalities of pyrimidine metabolism. In Hawk GL, Champlin PB, Hutton RF, Mol C, eds. Biological/Biomedical Applications of Liquid Chromatography II. New York and Basel: Marcel Dekker, Chromatographic Science Series 18: 285-296.
    • (1981) Chromatographic Science Series , vol.18 , pp. 285-296
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  • 2
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    • Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidien dehydrogenases, a new finding in a family with thymine- uraciluria
    • Van Gennip AH, Van Lenthe H, Abeling NGGM, Bakker HD, Van Kuilenburg ABP (1995) Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidien dehydrogenases, a new finding in a family with thymine- uraciluria. J Inher Metab Dis 18: 185-188.
    • (1995) J Inher Metab Dis , vol.18 , pp. 185-188
    • Van Gennip, A.H.1    Van Lenthe, H.2    Abeling, N.G.G.M.3    Bakker, H.D.4    Van Kuilenburg, A.B.P.5
  • 8
    • 0025990479 scopus 로고
    • Severe fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome
    • Harris BE, Carpenter JT, Diasio RB (1991) Severe fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome. Cancer Res 68: 499-501.
    • (1991) Cancer Res , vol.68 , pp. 499-501
    • Harris, B.E.1    Carpenter, J.T.2    Diasio, R.B.3
  • 9
    • 0029973215 scopus 로고    scopus 로고
    • Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity
    • Wei XX, Mcleod HL, Mcmurrough J, Gonzalez FJ, Fernandezsalguero P (1996) Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 95:610-615.
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    • Wei, X.X.1    Mcleod, H.L.2    Mcmurrough, J.3    Gonzalez, F.J.4    Fernandezsalguero, P.5
  • 10
    • 0028813120 scopus 로고
    • Human polymorphism in drug metabolism:Mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uraciluria
    • Meinsma R, Fernandez-Salguero P, van Kuilenburg ABP, van Gennip AH, Gonzalez FJ (1995) Human polymorphism in drug metabolism:Mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uraciluria. DNA Cell Biol 14: 1-6.
    • (1995) DNA Cell Biol , vol.14 , pp. 1-6
    • Meinsma, R.1    Fernandez-Salguero, P.2    Van Kuilenburg, A.B.P.3    Van Gennip, A.H.4    Gonzalez, F.J.5
  • 11
    • 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 (1996) A point mutation in an invariant splice donor site leads to exon skipping in two unrelated dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inher Metab Dis 19: 645-654.
    • (1996) J Inher 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
  • 13
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    • Identification of a four base deletion (delTCAT296-299) leading to dihydropyrimidine dehydrogenase deficiency
    • in press
    • Vreken P, van Kuilenburg ABP, Meinsma R, De Abreu RA, van Gennip AH (1997) Identification of a four base deletion (delTCAT296-299) leading to dihydropyrimidine dehydrogenase deficiency. Human Genetics: in press.
    • (1997) Human Genetics
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  • 14
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  • 15
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    • cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5- Fluorouracil toxicity and congenital thymine uraciluria
    • Yokota H, Fernandez-Salguero P, Furuya H et al (1994) cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5- fluorouracil toxicity and congenital thymine uraciluria. J Biol Chem 269: 23192-23196.
    • (1994) J Biol Chem , vol.269 , pp. 23192-23196
    • Yokota, H.1    Fernandez-Salguero, P.2    Furuya, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.