Article
Cross-Ethnic Variant Screening and Burden Analysis of PTPA in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2023
Li Chunyu, Lin Junyu, Jiang Qirui, Yang Tianmi, Xiao Yi, Huang Jingxuan, Hou Yanbing, Wei Qianqian, Cui Yiyuan, Wang Shichan, Xiaoting Zheng, Ou Ruwei, Liu Kuncheng, Chen Xueping, Song Wei, Zhao Bi, Shang Huifang
Abstract excerpt
BACKGROUND: Recently, homozygous variants in PTPA were identified as the disease cause for two pedigrees with early-onset parkinsonism and intellectual disability. Although the initial link between PTPA and parkinsonism has been established, further replication was still necessary. OBJECTIVES: To evaluate the genetic role of PTPA in Parkinson's disease (PD). METHODS: We analyzed rare variants of PTPA in cohorts...
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