लोड हो रहा है...
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,...
में बचाया:
| में प्रकाशित: | J Exp Med |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Rockefeller University Press
2021
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| विषय: | |
| ऑनलाइन पहुंच: | 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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