Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report

por Wen, Xiao-Ling, Wang, Yao-Zi, Zhang, Xia-Lin, Tu, Jia-Qiang, Zhang, Zhi-Juan, Liu, Xia-Xia, Lu, Hai-Yan, Hao, Guo-Ping, Wang, Xiao-Huan, Yang, Lin-Hua, Zhang, Rui-Juan
Publicado 2022