Article
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.
Biological chemistry - 1 Apr 2005
Van Kuilenburg André B P, Meinsma Rutger, Beke Eva, Bobba Barbara, Boffi Patrizia, Enns Gregory M, Witt David R, Dobritzsch Doreen
Abstract excerpt
Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases uracil and thymine, as well as of the widely used chemotherapeutic drug 5-fluorouracil (5FU). Analysis of the DPD gene ( DPYD ) in two patients presenting with complete DPD deficiency and the parents of an affected child showed the presence of three novel mutations, including one splice site...
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