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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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2022-03-01
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| coleção: | Acta Neuropathologica Communications |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s40478-022-01346-3 |
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