Article
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
Blood cells, molecules & diseases - 1 Jan 2000
Alfonso Pilar, Rodríguez-Rey José Carlos, Gañán Alberto, Pérez-Calvo Juan Ignacio, Giralt Manuel, Giraldo Pilar, Pocoví Miguel
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is a heterogeneous disease characterized by an impaired activity of the lysosomal glucocerebrosidase. This heterogeneity is attributed in part to the existence of a large number of mutations in the corresponding gene. SUBJECTS AND METHODS: To establish genotype-phenotype relationships, we analyzed the residual enzyme activities of six naturally occurring mutations found in Spanish...
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