Glucocerebrosidase mutations in Gaucher disease.


BACKGROUND Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified. Identification of mutations in these patients is useful for genetic… (More)


3 Figures and Tables

Slides referencing similar topics