TY  - JOUR
UR  - http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013
N2  - 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.
ID  - discovery1433423
A1  - Guerreiro, R
A1  - Brás, J
A1  - Wojtas, A
A1  - Rademakers, R
A1  - Hardy, J
A1  - Graff-Radford, N
KW  - Alzheimer's disease
KW  -  Exome sequencing
KW  -  Nonsense mutation
KW  -  PRNP
KW  -  Prion
JF  - Neurobiol Aging
VL  - 35
AV  - public
Y1  - 2014/05/27/
SP  - 2656.e13
EP  - 2656.e16
TI  - A nonsense mutation in PRNP associated with clinical Alzheimer's disease.
IS  - 11
N1  - © 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/).
ER  -