Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia.
age of onset
fatal familial insomnia
genetic variants
whole-exome sequencing
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
12 08 2023
12 08 2023
Historique:
received:
09
06
2023
revised:
14
07
2023
accepted:
17
07
2023
medline:
28
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 37626863
pii: cells12162053
doi: 10.3390/cells12162053
pmc: PMC10453322
pii:
doi:
Substances chimiques
Prions
0
Prion Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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