在零星的人类原体疾病中对PRNP体和生殖系变体进行神经病理导向的分析

Gannon A McDonough1, Yuchen Cheng2,3, Katherine Morillo2

  • 1Division of Neuropathology, Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.

概括

在PRNP基因的体质突变不是 Sporadic Creutzfeldt-Jakob病 (sCJD) 的重要原因. 深度测序在sCJD患者中没有发现这些突变的证据,这表明其他因素驱动了这种神经退行性疾病.

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