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Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

BACKGROUND: Inherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare...

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Pubblicato in:BMC Neurol
Autori principali: Hassan, Ahamad, Campbell, Tracy, Darwent, Lee, Odd, Hans, Green, Alison, Collinge, John, Mead, Simon
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8237416/
https://ncbi.nlm.nih.gov/pubmed/34182938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-021-02274-w
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