Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.

Abstract excerpt

BACKGROUND: Gaucher disease is the most common lysosomal storage disorder and is caused by a deficiency of the enzyme glucocerebrosidase. Enzyme deficiency leads to the accumulation of undegraded substrates, mainly in cells of the monocyte/ macrophage lineage, which is responsible for the clinical manifestations of the disease. To date, no study has attempted to identify the mutation spectrum of the...

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