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A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrP(Sc) conformation

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 histol...

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Autors principals: Tunnell, E, Wollman, R, Mallik, S, Cortes, C J., DeArmond, S J., Mastrianni, J A.
Format: Artigo
Idioma:Inglês
Publicat: American Academy of Neurology 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2676963/
https://ncbi.nlm.nih.gov/pubmed/18955686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000330237.94742.fa
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