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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 affected individuals. Both isoforms are encoded by the same prion protein gene (PRNP), and the structural changes occur...

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Identifiers

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

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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