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Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion

Abstract The adenosine triphosphate–binding cassette subfamily A member 7 gene (ABCA7) is associated with Alzheimer’s disease (AD) in large genome-wide association studies. Targeted sequencing of ABCA7 suggests a role for rare premature termination codon (PTC) mutations in AD, with haploinsufficienc...

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Autori principali: Liene Bossaerts, Elisabeth Hendrickx Van de Craen, Rita Cacace, Bob Asselbergh, Christine Van Broeckhoven
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2022-03-01
Serie:Acta Neuropathologica Communications
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Accesso online:https://doi.org/10.1186/s40478-022-01346-3
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