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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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1860183798

Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129

About this item

Full title

Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129

Publisher

United States: Massachusetts Medical Society

Journal title

The New England journal of medicine, 2017-01, Vol.376 (3), p.292-294

Language

English

Formats

Publication information

Publisher

United States: Massachusetts Medical Society

More information

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

Identifiers

Primary Identifiers

Record Identifier

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

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