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  • Diagnosis of Methionine/Val...
    Bougard, Daisy; Bélondrade, Maxime; Mayran, Charly; Bruyère-Ostells, Lilian; Lehmann, Sylvain; Fournier-Wirth, Chantal; Knight, Richard S; Will, Robert G; Green, Alison J E

    Emerging infectious diseases, 07/2018, Letnik: 24, Številka: 7
    Journal Article

    A patient with a heterozygous variant of Creutzfeldt-Jakob disease (CJD) with a methionine/valine genotype at codon 129 of the prion protein gene was recently reported. Using an ultrasensitive and specific protein misfolding cyclic amplification-based assay for detecting variant CJD prions in cerebrospinal fluid, we discriminated this heterozygous case of variant CJD from cases of sporadic CJD.