Article
Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients.
Medicina clinica - 24 Dec 2020
López de Frutos Laura, Alfonso Pilar, Lahoz Carlos, Irún Pilar, Giraldo Pilar
Abstract excerpt
BACKGROUND: Cytochrome p450 is the main drug metabolic pathway. CYP2D6 is a highly polymorphic gene that encodes a cytochrome p450 enzyme with three activity levels: null, reduced and normal. Apart from another type of mutations CYP2D6 can suffer duplications and deletions of the entire gene. This is the pathway to metabolize one of the Gaucher disease treatments, whose dose administration is regulated according...
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