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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Autors principals:	Katrin Thüne, Matthias Schmitz, John Wiedenhöft, Orr Shomroni, Stefan Göbel, Timothy Bunck, Neelam Younas, Saima Zafar, Peter Hermann, Inga Zerr
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2023-08-01
Col·lecció:	Cells
Matèries:	fatal familial insomnia genetic variants age of onset whole-exome sequencing
Accés en línia:	https://www.mdpi.com/2073-4409/12/16/2053
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