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Article

Discrepancy between Apolipoprotein E genotyping and proteotyping as a result of a nonsense mutation

1 Dec 2024

Abstract excerpt

BACKGROUND: Apolipoprotein E (APOE) ε4 is a significant genetic risk factor for late-onset Alzheimer's Disease and appears to be closely related with brain amyloidosis. Current identification methods for APOE ε4 carriers are mostly based on genotyping which cannot always predict the specific ApoE protein isoform. We present a case study of a sample with a discordant result for genotype compared to the protein...

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PMID: 39751091
DOI: 10.1002/alz.088844

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