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Article

Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease.

Neuroscience letters - 26 Sept 1994

de Silva R, Ironside J W, McCardle L, Esmonde T, Bell J, Will R, Windl O, Dempster M, Estibeiro P, Lathe R

Abstract excerpt

A systematic study of 'prion protein' genotype in cases of sporadic Creutzfeldt-Jakob disease showing amyloid plaques staining with anti-prion protein antibody has been performed. This revealed a relative excess of cases with valine at position 129 of the gene's open reading frame. The observation emphasises the importance of this site of common polymorphism in influencing the neuropathological phenotype in human...

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PMID: 7845623
DOI: 10.1016/0304-3940(94)90932-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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