Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129
Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129
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Publisher
United States: Massachusetts Medical Society
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Language
English
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Publisher
United States: Massachusetts Medical Society
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Scope and Contents
Contents
In this case study, variant Creutzfeldt–Jakob disease (CJD) is shown to occur in a young man with heterozygosity, rather than homozygosity, at codon 129 of the prion protein gene (
PRNP
).
To the Editor:
Prions cause lethal neurodegenerative diseases in mammals and are composed of multichain assemblies of misfolded host-encoded cellular...
Alternative Titles
Full title
Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129
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TN_cdi_proquest_journals_1860183798
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1860183798
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMc1610003