A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann–Sträussler–Scheinker disease phenotype: comparison with similar cases from the literature

Human prion diseases can be sporadic, inherited or acquired by infection and show considerable phenotypic heterogeneity. We describe the clinical, histopathological and pathological prion protein (PrP(Sc)) characteristics of a Dutch family with a novel 7-octapeptide repeat insertion (7-OPRI) in PRNP...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Jansen, Casper, Voet, Willem, Head, Mark W., Parchi, Piero, Yull, Helen, Verrips, Aad, Wesseling, Pieter, Meulstee, Jan, Baas, Frank, van Gool, Willem A., Ironside, James W., Rozemuller, Annemieke J. M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer-Verlag 2010
Pynciau:
Original Paper
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3015204/
https://ncbi.nlm.nih.gov/pubmed/20198483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-010-0656-3
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