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Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene

✍ Scribed by K. H. Skworc; O. Windl; W. J. Schulz-Schaeffer; A. Giese; J. Bergk; A. Nägele; P. Vieregge; I. Zerr; S. Poser; H. A. Kretzschmar


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
732 KB
Volume
46
Category
Article
ISSN
0364-5134

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Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts ca