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Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

dc.contributor.authorBierau, J.
dc.contributor.authorvan Kuilenburg, A. B. P.
dc.contributor.authorMeijer, J.
dc.contributor.authorRubio-Gozalbo, M. E.
dc.contributor.authorMul, A. N. P. M.
dc.contributor.authorde Die-Smulders, C. E. M.
dc.contributor.authorWeber, P.
dc.contributor.authorMori, A. Capone
dc.contributor.authorFowler, B.
dc.contributor.authorMacke, K.
dc.contributor.authorSass, J. O.
dc.contributor.authorMeinsma, R.
dc.contributor.authorHennermann, J. B.
dc.contributor.authorMiny, P.
dc.contributor.authorZoetekouw, L.
dc.contributor.authorRoelofsen, J.
dc.contributor.authorVijzelaar, R.
dc.contributor.authorNicolai, J.
dc.contributor.authorHennekam, R. C. M.
dc.contributor.authorBaykal, T.
dc.contributor.authorGokcay, Gülden Fatma
dc.date.accessioned2021-03-03T14:49:29Z
dc.date.available2021-03-03T14:49:29Z
dc.identifier.citationvan Kuilenburg A. B. P. , Meijer J., Gokcay G. F. , Baykal T., Rubio-Gozalbo M. E. , Mul A. N. P. M. , de Die-Smulders C. E. M. , Weber P., Mori A. C. , Bierau J., et al., "Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.", Nucleosides, nucleotides & nucleic acids, cilt.29, ss.509-14, 2010
dc.identifier.issn1525-7770
dc.identifier.otherav_3ba76e5e-ce2a-445a-bda1-357bfab35f81
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/44053
dc.identifier.urihttps://doi.org/10.1080/15257771003730227
dc.description.abstractDihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectYaşam Bilimleri
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.titleDihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
dc.typeMakale
dc.relation.journalNucleosides, nucleotides & nucleic acids
dc.contributor.departmentUniversity of Amsterdam , ,
dc.identifier.volume29
dc.identifier.startpage509
dc.identifier.endpage14
dc.contributor.firstauthorID194871


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