在早期发病的帕金森病中,PRKN和SYNJ1变异的同时出现

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Updated: Jun 24, 2025

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Juliana Cordovil Cotrin1, Rafael Mina Piergiorge1, Andressa Pereira Gonçalves1

  • 1Department of Genetics, Institute of Biology Roberto Alcantara Gomes, Rio de Janeiro State University, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.

Metabolic brain disease
|June 5, 2024
PubMed
概括

这项研究详细介绍了一名患有早期发病的帕金森病 (PD) 的巴西患者. 基因分析揭示了帕金 (PRKN) 和synaptojanin 1 (SYNJ1) 基因的突变,这表明对PD病变发生有协同作用.

关键词:
这就是PRKNN.这就是SYNJ1的原因.早期发生的帕金森病.帕金森病是帕金森氏症的一种疾病.整体外体测序 测序整个外体测序

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