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Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report |
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| Authors: | Xiao-Ling Wen Yao-Zi Wang Xia-Lin Zhang Jia-Qiang Tu Zhi-Juan Zhang Xia-Xia Liu Hai-Yan Lu Guo-Ping Hao Xiao-Huan Wang Lin-Hua Yang Rui-Juan Zhang |
| Abstract: | |
| Keywords: | Gaucher disease Parkinson’s disease Lipid metabolism Molecular mechanism Case report |
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