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Volume 10 Issue 1

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A mutation in SCARB2 is a modifier in Gaucher disease

Velayati A, DePaolo J, Gupta N et al.
National Institutes of Health, Bethesda, MD, USA.
Hum Mutat 2011;32:1232–8.
Editor’s note: The results of this interesting study demonstrate the detrimental effect of combined mutations in the glucocerebrosidase (GBA) gene and the scavenger receptor B2 (SCARB2) gene, which encodes the lysosomal receptor of GBA. These two mutations resulted in a severe neuronopathic phenotype with progressive myoclonic epilepsy and dementia, presenting at the age of 13 years, in one of two siblings with Gaucher disease.
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