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Title
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A nonsense mutation in PRNP associated with clinical Alzheimer's disease
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Author
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Abstract
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| 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 high-lighting how very similar genotypes in PRNP result in strikingly different phenotypes. (C) 2014 The Authors. Published by Elsevier Inc. All rights reserved. |
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Language
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English
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Source (journal)
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Neurobiology of aging. - Fayetteville, N.Y.
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Publication
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Fayetteville, N.Y.
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2014
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ISSN
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0197-4580
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DOI
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10.1016/J.NEUROBIOLAGING.2014.05.013
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Volume/pages
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35
:11
(2014)
, 4 p.
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Article Reference
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2656.e13
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ISI
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000343419800028
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Medium
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E-only publicatie
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Full text (Publisher's DOI)
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