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...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Shanghai Chinese Clinical Medicine Press Co., Ltd.
2025-06-01
|
| Schriftenreihe: | Zhongguo Linchuang Yixue |
| Schlagworte: | |
| Online-Zugang: | https://www.c-jcm.com/article/doi/10.12025/j.issn.1008-6358.2025.20241363 |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|