A nonsense mutation in PRNP associated with clinical Alzheimer's disease()

Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs8...

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Autors principals: Guerreiro, Rita, Brás, José, Wojtas, Aleksandra, Rademakers, Rosa, Hardy, John, Graff-Radford, Neill
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
Matèries:
Genetic Report Abstract
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4175176/
https://ncbi.nlm.nih.gov/pubmed/24958194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013
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