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Article

A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation.

Neurology - 28 Oct 2008

Tunnell E, Wollman R, Mallik S, Cortes C J, Dearmond S J, Mastrianni J A

Abstract excerpt

OBJECTIVE: To define the clinicopathologic, genetic, and pathogenic prion protein (PrP(Sc)) characteristics associated with a novel mutation of the prion protein gene (PRNP). METHODS: The coding segment of PRNP from the proband and family members was sequenced and the brain of the proband was histologically studied. The Western blot profile of the proteinase K (PK) resistant fraction of PrP(Sc), an approximation...

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Identifiers

PMID: 18955686
DOI: 10.1212/01.wnl.0000330237.94742.fa
PMCID: PMC2676963

Genes

PRNP
GSS

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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