Učitavanje...
An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo
Familial Alzheimer’s disease (FAD)–linked mutations in the APP gene occur either within the Aβ-coding region or immediately proximal and are located in exons 16 and 17, which encode Aβ peptides. We have identified an extremely rare, partially penetrant, single nucleotide variant (SNV), rs145081708,...
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| Izdano u: | J Exp Med |
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| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Rockefeller University Press
2021
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8034382/ https://ncbi.nlm.nih.gov/pubmed/33822840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20210313 |
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