Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase mutations (F109V, W184R and R395P), as well as thr...

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Bibliographic Details
Main Author: Amaral, O. (author)
Other Authors: Marcão, A. (author), Sá Miranda, M. (author), Desnick, R.J. (author), Grace, M.E. (author)
Format: article
Language:eng
Published: 2011
Subjects:
Doenças Genéticas
Genética Humana
Baculovirus
Gaucher disease
Phenotype/genotype
Mutation
Glucocerebrosidase
Portuguese
Online Access:http://hdl.handle.net/10400.18/303
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/303

Internet

http://hdl.handle.net/10400.18/303

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