PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment

Jiang, L; Qin, Y; Zhao, YW; Zeng, Q; Pan, HX; Liu, ZH; Sun, QY; Xu, Q; Tan, JQ; Yan, XX; Li, JC; Tang, BS; Guo, JF

Guo, JF (通讯作者)，Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China.

NEUROBIOLOGY OF AGING, 2022; 115 (): 70

Abstract

Presenilin 1 (PSEN1) mutations are a major cause of familial Alzheimer's disease. The pathogenic variant, PSEN1 p.G417S, has been reported to be assoc......

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