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Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
Authors:Dagvadorj Ayush  Petersen Robert B  Lee Hee Suk  Cervenakova Larisa  Shatunov Alexey  Budka Herbert  Brown Paul  Gambetti Pierluigi  Goldfarb Lev G
Affiliation:National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Abstract:
We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observed. We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.
Keywords:
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