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

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 haploinsufficiency through...

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Detalles Bibliográficos
Autores principales: Bossaerts, Liene, Hendrickx Van de Craen, Elisabeth, Cacace, Rita, Asselbergh, Bob, Van Broeckhoven, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973822/
https://www.ncbi.nlm.nih.gov/pubmed/35361255
http://dx.doi.org/10.1186/s40478-022-01346-3

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