Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China

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作者：

Yikun Chen、Yan Shi、Yuan Gao、Yan Hu、Linying Zhou、Jingmei Hong、Shirui Gan、Xiang Lin、Wanjin Chen、Guorong Xu、Jin He

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作者单位：

Department of Neurology and Institute of Neurology of First Affiliated Hospital,Institute of Neuroscience,and Fujian Key Laboratory of Molecular Neurology,Fujian Medical University,Fuzhou,Fujian 350005,China

Fujian Key Laboratory of Molecular Neurology,Institute of Neuroscience,Fujian Medical University,Fuzhou,Fujian 350005,China

Electron Microscopy Lab of Public Technology Service Center,Fujian Medical University,Fuzhou,Fujian 350005,China

基金：

National Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaNational Natural Science Foundation of China

项目编号：

8227141282025012U1905210

出版年：

2024

DOI：

10.1016/j.gendis.2023.101140

基因与疾病(英文)

ISSN：

年,卷(期)：2024.11(5)