ArticleMolecular biology reports2023
Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.
Article in Molecular biology reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors at 4 institutions in 1 country.
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Abstract
backgroundAlzheimer's disease (AD) is an incurable and debilitating neurodegenerative disease that results in the progressive degeneration and death of nerve cells. Mutations in the APP gene, which encodes an amyloid precursor protein, is the strongest genetic risk factor for sporadic AD. METHODS AND
resultsWe studied the APP gene (NM_000484.3: c.2045A > T; p.E682V) variants carried by members of a family suffering from AD using whole-exome sequencing and Sanger sequencing.
conclusionIn this study, we identified a new variant of the APP gene (NM_000484.3: c.2045A > T; p.E682V) in members of a family with AD. This provides potential targets for subsequent studies and information that can be used in genetic counselling.
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