Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene

A marked deficiency of beta -glucocerebrosidase (EC 3.2.1.45), the lysosomal beta -glucocerebrosidase responsible for catalyzing the hydrolysis of the glucosphingolipid glucocerebroside to ceremide and glucose, is the cause of Gaucher disease. The variable onset of Gaucher symptoms causes difficulti...

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