Article
Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.
Nucleosides, nucleotides & nucleic acids - 1 Jun 2008
van Kuilenburg A B P, Meijer J, Dobritzsch D, Lohkamp B, Ruitenbeek W, Roelofsen J, Abeling N G G M, Duran M, Buzing C
Abstract excerpt
A patient with hematuria was shown to have thymine-uraciluria. The dihydropyrimidine dehydrogenase (DPD) activity in peripheral blood mononuclear cells was 0.16 nmol/mg/h; controls: 9.9 +/- 2.8 nmol/mg/h. Analysis of DPYD showed that the patient was compound heterozygous for the novel mutations 237C > A (C79X) in exon 4 and 704G > A (R235Q) in exon 7. The nonsense mutation (C79X) leads to premature termination of...
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