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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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Detalhes bibliográficos
Main Authors: Blech-Hermoni, Yotam N., Ziegler, Shira G., Hruska, Kathleen S., Stubblefield, Barbara K., LaMarca, Mary E., Portnoy, Matthew E., Green, Eric D., Sidransky, Ellen
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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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