Association Between Progranulin and Gaucher Disease

BACKGROUND: Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with GD. METHODS: Serum levels of PGRN were measur...

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Detalles Bibliográficos
Autores principales: Jian, Jinlong, Zhao, Shuai, Tian, Qing-Yun, Liu, Helen, Zhao, Yunpeng, Chen, Wen-Chi, Grunig, Gabriele, Torres, Paola A., Wang, Betty C., Zeng, Bai, Pastores, Gregory, Tang, Wei, Sun, Ying, Grabowski, Gregory A., Kong, Max Xiangtian, Wang, Guilin, Chen, Ying, Liang, Fengxia, Overkleeft, Herman S., Saunders-Pullman, Rachel, Chan, Gerald L., Liu, Chuan-ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049935/
https://www.ncbi.nlm.nih.gov/pubmed/27515686
http://dx.doi.org/10.1016/j.ebiom.2016.08.004

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