Glucocerebrosidase gene mutations in black South Africans with Gaucher disease.

Abstract excerpt

Gaucher disease (GD) is caused by mutations in the glucocerebrocidase gene (GBA) and presents with variable severity. Type 1 is characterized by the lack of neurological symptoms in childhood, whereas types 2 and 3 are early onset neuronopathic forms and result in premature death. Only type 1 GD has been reported in black South Africans and the cases are clinically severe. In this study both GBA mutations were...

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