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Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann–Sträussler–Scheinker disease

The clinicopathological phenotype of the Gerstmann–Sträussler–Scheinker disease (GSS) variant linked to the codon 102 mutation in the prion protein (PrP) gene (GSS P102L) shows a high heterogeneity. This variability also is observed in subjects with the same prion protein gene PRNP haplotype and is...

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Bibliographische Detailangaben
Hauptverfasser: Parchi, Piero, Chen, Shu G., Brown, Paul, Zou, Wenquan, Capellari, Sabina, Budka, Herbert, Hainfellner, Johannes, Reyes, Patricio F., Golden, Gregory T., Hauw, Jean J., Gajdusek, D. Carleton, Gambetti, Pierluigi
Format: Artigo
Sprache:Inglês
Veröffentlicht: The National Academy of Sciences 1998
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC20974/
https://ncbi.nlm.nih.gov/pubmed/9653185
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