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Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia

Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease with a wide variability in age of onset. Its causes are not known. In the present study, we aimed to analyze genetic risk factors other than the prion protein gene (<i>PRNP</i>), in FFI patients with varying ages of o...

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Detaylı Bibliyografya
Asıl Yazarlar: Katrin Thüne, Matthias Schmitz, John Wiedenhöft, Orr Shomroni, Stefan Göbel, Timothy Bunck, Neelam Younas, Saima Zafar, Peter Hermann, Inga Zerr
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI AG 2023-08-01
Seri Bilgileri:Cells
Konular:
Online Erişim:https://www.mdpi.com/2073-4409/12/16/2053
Etiketler: Etiketle
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