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Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series

Amyloid precursor protein gene (APP) duplications have been identified in screens of selected probands with early onset familial Alzheimer's disease (FAD). A causal role for copy number variation (CNV) in the prion protein gene (PRNP) in prion dementias is not known. We aimed to determine the p...

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Detalles Bibliográficos
Autores principales: McNaughton, Daniel, Knight, William, Guerreiro, Rita, Ryan, Natalie, Lowe, Jessica, Poulter, Mark, Nicholl, David J., Hardy, John, Revesz, Tamas, Lowe, James, Rossor, Martin, Collinge, John, Mead, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657692/
https://www.ncbi.nlm.nih.gov/pubmed/21193246
http://dx.doi.org/10.1016/j.neurobiolaging.2010.10.010