@article{discovery1433423,
          volume = {35},
            note = {{\copyright} 2014 The Authors. Published by Elsevier Inc.This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/3.0/).},
           pages = {2656.e13--2656.e16},
          number = {11},
           month = {May},
           title = {A nonsense mutation in PRNP associated with clinical Alzheimer's disease.},
            year = {2014},
         journal = {Neurobiol Aging},
             url = {http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013},
          author = {Guerreiro, R and Br{\'a}s, J and Wojtas, A and Rademakers, R and Hardy, J and Graff-Radford, N},
        abstract = {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*; rs80356711) associated with homozygosity for the V allele at position 129 of the protein, further highlighting how very similar genotypes in PRNP result in strikingly different phenotypes.},
        keywords = {Alzheimer's disease, Exome sequencing, Nonsense mutation, PRNP, Prion}
}