Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria in homozygous deficient patients. Cancer patients with a partial deficiency of DPD are at risk of developing severe life-threatening toxicities after the administration of 5-fluorou...

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Autors principals: van Kuilenburg, André B P, Dobritzsch, Doreen, Meinsma, Rutger, Haasjes, Janet, Waterham, Hans R, Nowaczyk, Malgorzata J M, Maropoulos, George D, Hein, Guido, Kalhoff, Hermann, Kirk, Jean M, Baaske, Holger, Aukett, Anne, Duley, John A, Ward, Kate P, Lindqvist, Ylva, van Gennip, Albert H
Format: Artigo
Idioma:Inglês
Publicat: 2002
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1222557/
https://ncbi.nlm.nih.gov/pubmed/11988088
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