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ANALYSIS OF SEVERELY AFFECTED PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY REVEALS LARGE INTRAGENIC REARRANGEMENTS OF DPYD AND A DE NOVO INTERSTITIAL DELETION DEL(1)(P13.3P21.3)

dc.contributor.authorMul, A. N. P. M.
dc.contributor.authorvan Kuilenburg, A. B. P.
dc.contributor.authorRubio-Gozalbo, M. E.
dc.contributor.authorMeijer, J.
dc.contributor.authorNicolai, J.
dc.contributor.authorYlstra, B.
dc.contributor.authorHennekam, R. C. M.
dc.contributor.authorGokcay, G.
dc.contributor.authorVijzelaar, R.
dc.contributor.authorZoetekouw, L.
dc.contributor.authorMiny, P.
dc.contributor.authorHennermann, J. B.
dc.contributor.authorMeinsma, R.
dc.contributor.authorSass, J. O.
dc.contributor.authorMacke, K.
dc.contributor.authorFowler, B.
dc.contributor.authorBierau, J.
dc.contributor.authorMori, A. Capone
dc.contributor.authorWeber, P.
dc.contributor.authorde Die-Smulders, C. E. M.
dc.date.accessioned2021-03-04T18:37:01Z
dc.date.available2021-03-04T18:37:01Z
dc.identifier.citationvan Kuilenburg A. B. P. , Meijer J., Mul A. N. P. M. , Rubio-Gozalbo M. E. , Gokcay G., de Die-Smulders C. E. M. , Weber P., Mori A. C. , Bierau J., Fowler B., et al., "ANALYSIS OF SEVERELY AFFECTED PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY REVEALS LARGE INTRAGENIC REARRANGEMENTS OF DPYD AND A DE NOVO INTERSTITIAL DELETION DEL(1)(P13.3P21.3)", 11th International Conference of Inborn Errors of Metabolism, California, Amerika Birleşik Devletleri, 29 Ağustos - 02 Eylül 2009, cilt.98, ss.20
dc.identifier.othervv_1032021
dc.identifier.otherav_8bac5326-1c0a-4a12-b61e-e6105b3b5769
dc.identifier.urihttp://hdl.handle.net/20.500.12627/94535
dc.language.isoeng
dc.subjectİç Hastalıkları
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectTıbbi Genetik
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectYaşam Bilimleri (LIFE)
dc.titleANALYSIS OF SEVERELY AFFECTED PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY REVEALS LARGE INTRAGENIC REARRANGEMENTS OF DPYD AND A DE NOVO INTERSTITIAL DELETION DEL(1)(P13.3P21.3)
dc.typeBildiri
dc.contributor.departmentUniversity of Amsterdam , ,
dc.identifier.volume98
dc.contributor.firstauthorID136295


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