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Article

Novel mutation of the PRNP gene of a clinical CJD case.

BMC infectious diseases - 27 Nov 2006

Kotta Konstantia, Paspaltsis Ioannis, Bostantjopoulou Sevasti, Latsoudis Helen, Plaitakis Andreas, Kazis Dimitrios, Collinge John, Sklaviadis Theodoros

Abstract excerpt

BACKGROUND: Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrPC. The abnormal form of prion protein, PrPSc accumulates in the brain of affect...

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Identifiers

PMID: 17129366
DOI: 10.1186/1471-2334-6-169
PMCID: PMC1693557

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17129366-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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