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 (PRNP), in FFI patients with varying ages of onset. W...

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Detalles Bibliográficos
Autores principales: Thüne, Katrin, Schmitz, Matthias, Wiedenhöft, John, Shomroni, Orr, Göbel, Stefan, Bunck, Timothy, Younas, Neelam, Zafar, Saima, Hermann, Peter, Zerr, Inga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453322/
https://www.ncbi.nlm.nih.gov/pubmed/37626863
http://dx.doi.org/10.3390/cells12162053

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