Article

The presenilin 1 mutation P436S causes familial Alzheimer’s disease with elevated Aβ43 and atypical clinical manifestations

2023-12-06

Abstract excerpt

<h4>Structured Abstract</h4> <h4>BACKGROUND</h4> Familial Alzheimer’s disease (fAD) is heterogeneous in terms of age at onset and clinical presentation. A greater understanding of the pathogenicity of fAD variants and how these contribute to heterogeneity will enhance our understanding of the mechanisms of Alzheimer’s disease more widely. The pathogenicity of the P436S mutation in PSEN1 remains unclassified. <h4>M...

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Literature Corpus work: 7ab0d75c-a302-5b1b-89b0-b83df359177e
DOI: 10.1101/2023.12.06.23299395

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