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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| Main Authors: | Yi ZHAO, Junwen LI, Chunlian JU, Weibin QIU, Bo ZUO, Zhigang YANG, Yansheng LI |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Shanghai Chinese Clinical Medicine Press Co., Ltd.
2025-06-01
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| Series: | Zhongguo Linchuang Yixue |
| Subjects: | |
| Online Access: | https://www.c-jcm.com/article/doi/10.12025/j.issn.1008-6358.2025.20241363 |
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