Search for a genetic cause of variably protease-sensitive prionopathy.
Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease currently classified as sporadic. We performed exome sequencing and targeted sequencing of PRNP non-coding regions on genomic DNA from autopsy-confirmed VPSPr patients (N = 67) in order to search for a possi...
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| Main Authors: | Yuan Lian, Keisi Kotobelli, Stacey Hall, Michael E Talkowski, Anne O'Donnell-Luria, Sonia Minikel Vallabh, Brian S Appleby, Eric Vallabh Minikel |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2025-08-01
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| Series: | PLoS Pathogens |
| Online Access: | https://doi.org/10.1371/journal.ppat.1013343 |
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