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X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene that encodes acid-β-glucosidase (GlcCerase). Type 1 is characterized by hepatosplenomegaly, and types 2 and 3 by early or chronic onset of severe neurological symptoms. No clear correlation exists between...

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Hlavní autoři: Dvir, Hay, Harel, Michal, McCarthy, Andrew A., Toker, Lilly, Silman, Israel, Futerman, Anthony H., Sussman, Joel L.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2003
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1326319/
https://ncbi.nlm.nih.gov/pubmed/12792654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.embor.embor873
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