Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val1...
Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene
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Basel: MDPI AG
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English
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Basel: MDPI AG
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Genetic Creutzfeldt–Jakob disease (gCJD) associated with the V180I mutation in the prion protein (PrP) gene (PRNP) in phase with residue 129M is the most frequent cause of gCJD in East Asia, whereas it is quite uncommon in Caucasians. We report on a gCJD patient with the rare V180I-129V haplotype, showing an unusually long duration of the disease a...
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Full title
Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9499355
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9499355
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms231810210