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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Autori principali: Blech-Hermoni, Yotam N., Ziegler, Shira G., Hruska, Kathleen S., Stubblefield, Barbara K., LaMarca, Mary E., Portnoy, Matthew E., Green, Eric D., Sidransky, Ellen
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Article
Accesso online: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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