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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: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2014
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| Matèries: | |
| 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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