Article
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
Human mutation - 1 Jan 1997
Boot R G, Hollak C E, Verhoek M, Sloof P, Poorthuis B J, Kleijer W J, Wevers R A, van Oers M H, Mannens M M, Aerts J M, van Weely S
Abstract excerpt
Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurological involvement. The relative incidence of glucocerebrosidase (GC) mutations has been studied extensively for Jewish but not for non-Jewish Caucasian patient...
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