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5. A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene). Petersen RB; Goldfarb LG; Tabaton M; Brown P; Monari L; Cortelli P; Montagna P; Autilio-Gambetti L; Gajdusek DC; Lugaresi E Mol Neurobiol; 1994; 8(2-3):99-103. PubMed ID: 7999319 [TBL] [Abstract][Full Text] [Related]
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11. Association of prion protein genotype and scrapie prion protein type with cellular prion protein charge isoform profiles in cerebrospinal fluid of humans with sporadic or familial prion diseases. Schmitz M; Lüllmann K; Zafar S; Ebert E; Wohlhage M; Oikonomou P; Schlomm M; Mitrova E; Beekes M; Zerr I Neurobiol Aging; 2014 May; 35(5):1177-88. PubMed ID: 24360565 [TBL] [Abstract][Full Text] [Related]
13. Phenotypic variability in familial prion diseases due to the D178N mutation. Zarranz JJ; Digon A; Atarés B; Rodríguez-Martínez AB; Arce A; Carrera N; Fernández-Manchola I; Fernández-Martínez M; Fernández-Maiztegui C; Forcadas I; Galdos L; Gómez-Esteban JC; Ibáñez A; Lezcano E; López de Munain A; Martí-Massó JF; Mendibe MM; Urtasun M; Uterga JM; Saracibar N; Velasco F; de Pancorbo MM J Neurol Neurosurg Psychiatry; 2005 Nov; 76(11):1491-6. PubMed ID: 16227536 [TBL] [Abstract][Full Text] [Related]
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