Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

BACKGROUND: Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of G...

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Detalhes bibliográficos
Main Authors: Yildiz, Yildiz, Hoffmann, Per, vom Dahl, Stefan, Breiden, Bernadette, Sandhoff, Roger, Niederau, Claus, Horwitz, Mia, Karlsson, Stefan, Filocamo, Mirella, Elstein, Deborah, Beck, Michael, Sandhoff, Konrad, Mengel, Eugen, Gonzalez, Maria C, Nöthen, Markus M, Sidransky, Ellen, Zimran, Ari, Mattheisen, Manuel
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3850879/
https://ncbi.nlm.nih.gov/pubmed/24070122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-151
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