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Dokumenttyp:
journal article 
Autor(en):
van Kuilenburg, AB; Meijer, J; Mul, AN; Meinsma, R; Schmid, V; Dobritzsch, D; Hennekam, RC; Mannens, MM; Kiechle, M; Etienne-Grimaldi, MC; Klümpen, HJ; Maring, JG; Derleyn, VA; Maartense, E; Milano, G; Vijzelaar, R; Gross, E 
Titel:
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. 
Abstract:
Dihydropyrimidine dehydrogenase (DPD) is the initial enzyme acting in the catabolism of the widely used antineoplastic agent 5-fluorouracil (5FU). DPD deficiency is known to cause a potentially lethal toxicity following administration of 5FU. Here, we report novel genetic mechanisms underlying DPD deficiency in patients presenting with grade III/IV 5FU-associated toxicity. In one patient a genomic DPYD deletion of exons 21-23 was observed. In five patients a deep intronic mutation c.1129-5923C>G...    »
 
Zeitschriftentitel:
Hum Genet 
Jahr:
2010 
Band / Volume:
128 
Heft / Issue:
Seitenangaben Beitrag:
529-38 
Sprache:
eng 
Print-ISSN:
0340-6717 
TUM Einrichtung:
Frauenklinik und Poliklinik