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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| Hoofdauteurs: | , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
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Shanghai Chinese Clinical Medicine Press Co., Ltd.
2025-06-01
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| Reeks: | Zhongguo Linchuang Yixue |
| Onderwerpen: | |
| Online toegang: | https://www.c-jcm.com/article/doi/10.12025/j.issn.1008-6358.2025.20241363 |
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