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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer-Verlag 2010
Gaiak:
Original Investigation
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak