Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

The largest kindred with inherited prion disease P102L, historically Gerstmann-Sträussler-Scheinker syndrome, originates from central England, with émigrés now resident in various parts of the English-speaking world. We have collected data from 84 patients in the large UK kindred and numerous small...

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Bibliografiske detaljer
Main Authors: Webb, T. E. F., Poulter, M., Beck, J., Uphill, J., Adamson, G., Campbell, T., Linehan, J., Powell, C., Brandner, S., Pal, S., Siddique, D., Wadsworth, J. D., Joiner, S., Alner, K., Petersen, C., Hampson, S., Rhymes, C., Treacy, C., Storey, E., Geschwind, M. D., Nemeth, A. H., Wroe, S., Collinge, J., Mead, S.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2008
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2570713/
https://ncbi.nlm.nih.gov/pubmed/18757886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awn202
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