Article
Clinical and molecular characteristics of patients with Gaucher disease in Southern China.
Blood cells, molecules & diseases - 1 Feb 2018
Feng Yuyu, Huang Yonglan, Tang Chengfang, Hu Hao, Zhao Xiaoyuan, Sheng Huiying, Zhang Wen, Tan Minyi, Xie Ting, Zheng Jipeng, Liu Zongcai, Su Xueying, Shao Yongxian, Li Xiuzhen, Cheng Jing, Mao Xiaojian, Liu Li
Abstract excerpt
Gaucher disease (GD) is a common lysosomal storage disorder caused by the deficiency of acid β-glucosidase, due to mutations in the GBA gene. To explore the clinical and molecular characteristics of GD patients from Southern China, GBA gene were analyzed by nest PCR and direct Sanger-sequencing. Novel missense mutations were transiently transfected in COS-7 cells by plasmid system for functional verification....
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