A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disor...

Source: BMC Medical Genomics - March 25, 2024 Category: Genetics & Stem Cells Authors: Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou and Petros P. Petrou Tags: Research Source Type: research