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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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Principais autores: Jinlong Jian, Shuai Zhao, Qing-Yun Tian, Helen Liu, Yunpeng Zhao, Wen-Chi Chen, Gabriele Grunig, Paola A. Torres, Betty C. Wang, Bai Zeng, Gregory Pastores, Wei Tang, Ying Sun, Gregory A. Grabowski, Max Xiangtian Kong, Guilin Wang, Ying Chen, Fengxia Liang, Herman S. Overkleeft, Rachel Saunders-Pullman, Gerald L. Chan, Chuan-ju Liu
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016-09-01
coleção:EBioMedicine
Assuntos:
Progranulin
β-Glucocerebrosidase
Gaucher disease
Lysosomal storage diseases
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S235239641630353X
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