Article
Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies.
Neurology - 1 Dec 1994
Laplanche J L, Delasnerie-Lauprêtre N, Brandel J P, Chatelain J, Beaudry P, Alpérovitch A, Launay J M
Abstract excerpt
Human prion diseases are characterized by the accumulation in the brain of an abnormal form of the prion protein. Prion protein polymorphisms seem to play a key role in the pathogenesis of these diseases, probably by enhancing the amyloidogenic properties of the protein. We performed prion protein gene (PRNP) coding sequence analysis in 57 French subjects with Creutzfeldt-Jakob disease (CJD) and found a mutation...
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