Article
Association Between Progranulin and Gaucher Disease.
EBioMedicine - 1 Sept 2016
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
Abstract excerpt
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 measured from 115 GD patients and 99 healthy controls, whole GRN gene from 40 GD patients was sequenced, and the...
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