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

Abstract Background 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 disorder. The clinical spectrum of affected individuals is wide ranging f...

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Autors principals:	Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-03-01
Col·lecció:	BMC Medical Genomics
Matèries:	DPYD Dihydropyrimidine dehydrogenase Fluoropyrimidines Copy number variants Deletion Toxicity
Accés en línia:	https://doi.org/10.1186/s12920-024-01846-2
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