Article
Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
Human mutation - 1 Oct 2013
Alfonso Pilar, Navascués Joaquín, Navarro Silvia, Medina Pilar, Bolado-Carrancio Alfonso, Andreu Vanesa, Irún Pilar, Rodríguez-Rey José Carlos, Pocoví Miguel, España Francisco, Giraldo Pilar
Abstract excerpt
The extreme phenotypic variability of patients with Gaucher disease (GD) is not completely explained by glucocerebrosidase gene mutations. It has been proposed that genetic modifiers might influence GD phenotype. We examined seven polymorphisms of the glucosylceramide synthase gene (UGCG) and their correlation with severity of GD. Five UGCG variants were significantly associated with disease severity, according...
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