## 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
✦ LIBER ✦
Glucocerebrosidase gene mutations in black South Africans with Gaucher disease
✍ Scribed by Silke Arndt; Rene Heitner; Anthony Lane; Michèle Ramsay
- Book ID
- 116304674
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 443 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1079-9796
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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+2T→A) were identified by dir