Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

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 d...

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Main Authors: van Kuilenburg, André B. P., Meijer, Judith, Mul, Adri N. P. M., Meinsma, Rutger, Schmid, Veronika, Dobritzsch, Doreen, Hennekam, Raoul C. M., Mannens, Marcel M. A. M., Kiechle, Marion, Etienne-Grimaldi, Marie-Christine, Klümpen, Heinz-Josef, Maring, Jan Gerard, Derleyn, Veerle A., Maartense, Ed, Milano, Gérard, Vijzelaar, Raymon, Gross, Eva
Format: Artigo
Sprog:Inglês
Udgivet: Springer-Verlag 2010
Fag:
Original Investigation
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2955237/
https://ncbi.nlm.nih.gov/pubmed/20803296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0879-3
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