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Article

Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene.

PloS one - 1 Jan 2013

Pocchiari Maurizio, Poleggi Anna, Puopolo Maria, D'Alessandro Marco, Tiple Dorina, Ladogana Anna

Abstract excerpt

BACKGROUND: The E200K mutation of the prion protein gene (PRNP) is the most frequent amino acid substitution in genetic Creutzfeldt-Jakob disease and is the only one responsible for the appearance of clustered cases in the world. In the Israel and Slovakian clusters, age of disease onset was redu...

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Identifiers

PMID: 23565236
DOI: 10.1371/journal.pone.0060376
PMCID: PMC3614945

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23565236-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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