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pubmed-article:12771252pubmed:abstractTextMutations in the prion protein gene (PRNP) are found in approximately 13 to 15% of persons classified as dying from a transmissible spongiform encephalopathy. Point and octapeptide repeat insert and deletion mutations are described in the open reading frame (ORF) of PRNP. The authors present a clinicopathologic study of a patient with a family history of a lengthy and progressive neurodegenerative disorder associated with a novel large octapeptide repeat insert mutation.lld:pubmed
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pubmed-article:12771252pubmed:articleTitleNovel prion protein insert mutation associated with prolonged neurodegenerative illness.lld:pubmed
pubmed-article:12771252pubmed:affiliationDepartment of Pathology, The University of Melbourne, Parkville, Victoria, Australia.lld:pubmed
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