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1.3.1.1
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mutation IVS14+1G>A results in a 165bp deletion (corresponding to exon 14) in the DPD mRNA, the resulting protein product is truncated by 55 amino acids, and its catalytic activity is virtually absent, the mutation is responsible for a significant proportion of life-threatening toxicity of 5-fluorouracil
689372
1.3.1.1
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the splice-site polymorphism IVS14+1G>A results in severe DPD deficiency with absent DPD activity
687190
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