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Mutation analysis in gaucher disease

✍ Scribed by Beutler, Ernest ;Gelbart, Terri

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
118 KB
Volume
44
Category
Article
ISSN
0148-7299

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## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2