Article
Report about four novel mutations in the prion protein gene.
Dementia and geriatric cognitive disorders - 1 Jan 2013
Schelzke Gabi, Stoeck Katharina, Eigenbrod Sabina, Grasbon-Frodl Eva, Raddatz Lena M, Ponto Claudia, Kretzschmar Hans A, Zerr Inga
Abstract excerpt
BACKGROUND/AIMS: Since detection of the prion protein gene (PRNP) more than 30 mutations have been discovered. Some have only been found in single case reports without known intrafamilial accumulation or neuropathological proof so that the causal connection between mutation and disease could not be proved. Those patients often present atypical clinical phenotypes, and it is not unusual that they are classified as...
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