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Article

Evidence for a pathogenic role of different mutations at codon 188 of PRNP.

PloS one - 14 May 2008

Roeber Sigrun, Grasbon-Frodl Eva-Maria, Windl Otto, Krebs Bjarne, Xiang Wei, Vollmert Caren, Illig Thomas, Schröter Andreas, Arzberger Thomas, Weber Petra, Zerr Inga, Kretzschmar Hans A

Abstract excerpt

Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance. We identified two different rare mutations in codon 188 of the prion protein gene (PRNP) in four patients suffering from a disease clinically very similar to the major subtype of sporadic CJD. Both...

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Identifiers

PMID: 18478114
DOI: 10.1371/journal.pone.0002147
PMCID: PMC2366066

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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