## 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
Differences in origin of the 1448C mutation in patients with Gaucher disease
β Scribed by KYOKO IWASAWA; HIROYUKI IDA; YOSHIKATSU ETO
- Book ID
- 108970558
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 268 KB
- Volume
- 39
- Category
- Article
- ISSN
- 1328-8067
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Communicated by Peter H. Byers Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewis
Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2TβA) were identified by dir