相关实验视频

Updated: Jul 8, 2026

Isolation of Soluble and Insoluble PrP Oligomers in the Normal Human Brain
11:29

Isolation of Soluble and Insoluble PrP Oligomers in the Normal Human Brain

Published on: October 3, 2012

PRNP E146G突变遗传的病:具有独特的临床,病理和流体生物标记特征

Thomas Coysh1,2, Zane Jaunmuktane3, Laszlo L P Hosszu1

  • 1MRC Prion Unit at UCL, UCL Institute of Prion Diseases, 33 Cleveland Street, London, W1W 7FF, UK.

Journal of neurology
|March 29, 2025
PubMed
概括

一种新型的PRNP E146G突变导致具有明显临床和生物标记特征的遗传性性疾病 (IPD). 这一发现有助于识别这种罕见的神经退行性疾病.

关键词:
生物标志物 生物标志物遗传性病是一种遗传性病.突变突变是一种突变.神经退行发生神经退行.病理学 病理学 病理学普里昂 (Prion) 是一个子.

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