Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion
Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion
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Author / Creator
Brennecke, Nicholas , Cali, Ignazio , Mok, Tze How , Speedy, Helen , Genomics England Research Consortium , Hosszu, Laszlo L P , Stehmann, Christiane , Cracco, Laura , Puoti, Gianfranco , Prior, Thomas W , Cohen, Mark L , Collins, Steven J , Mead, Simon , Appleby, Brian S and Genomics England Research Consortium
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Genetic prion disease accounts for 10-15% of prion disease. While insertion of four or more octapeptide repeats are clearly pathogenic, smaller repeat insertions have an unclear pathogenicity. The goal of this case series was to provide an insight into the characteristics of the 2-octapeptide repeat genetic variant and to provide insight into the r...
Alternative Titles
Full title
Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c04a6d71b61f49a99831430bef4d4116
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c04a6d71b61f49a99831430bef4d4116
Other Identifiers
ISSN
1999-4915
E-ISSN
1999-4915
DOI
10.3390/v13091794
