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GBA1 Thr408Met mutation in a patient with Parkinson’s disease

GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. Th...

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Principais autores: Yi ZHAO, Junwen LI, Chunlian JU, Weibin QIU, Bo ZUO, Zhigang YANG, Yansheng LI
Format: Artigo
Sprog:Inglês
Udgivet: Shanghai Chinese Clinical Medicine Press Co., Ltd. 2025-06-01
Serier:Zhongguo Linchuang Yixue
Fag:
parkinson’s disease
gba1 gene mutation
pathogenesis
diagnosis
treatment
prognosis
Online adgang:https://www.c-jcm.com/article/doi/10.12025/j.issn.1008-6358.2025.20241363
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