Miriam Ricasoli

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Background DPD deficiency is the result of loss-of-function mutations within the dihydropyrimidine dehydrogenase (DPD) gene. The IVS14+1G>A variant is associated with DPD deficiency as a result of a 165-bp deletion in the DPD mRNA. A rare mutation, c.2846A>T, is characterized by a change of the acidic aspartic acid to the aliphatic valine with potential(More)
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