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In silico and functional studies of the regulation of the glucocerebrosidase gene
In Gaucher disease (GD), the inherited deficiency of glucocerebrosidase results in the accumulation of glucocerebroside within lysosomes. Although almost 300 mutations in the glucocerebrosidase gene (GBA) have been identified, the ability to predict phenotype from genotype is quite limited. In this...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2827879/ https://ncbi.nlm.nih.gov/pubmed/20004604 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.10.189 |
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