Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of t...
Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Familial Alzheimer’s disease (FAD), caused by mutations in Presenilin
(PSEN1/2)
and Amyloid Precursor Protein
(APP
) genes, is associated with an early age at onset (AAO) of symptoms. AAO is relatively consistent within families and between carriers of the same mutations, but differs markedly between individuals carrying different mutat...
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Full title
Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9156411
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9156411
Other Identifiers
ISSN
1359-4184,1476-5578
E-ISSN
1476-5578
DOI
10.1038/s41380-022-01518-6
