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<i>APOE3</i> Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease

Yakeel T. Quiroz, David Aguillón, Daniel Camilo Aguirre–Acevedo, Daniel Vásquez, Yesica Zuluaga, Ana Baena, Lucía Madrigal, Liliana Hincapié, Justin S. Sanchez, Stephanie Langella, Rafael Posada‐Duque, Jessica Lisa Littau, Nelson David Villalba‐Moreno, Clara Vila‐Castelar, Liliana Ramírez Gómez, Gloria García, Elizabeth Kaplan, Susana Vargas, J. Alejandro Ossa, Pablo Valderrama‐Carmona, Paula Perez‐Corredor, Susanne Krasemann, Markus Glatzel, Kenneth S. Kosik, Keith Johnson, Reisa A. Sperling, Eric M. Reiman, Diego Sepúlveda‐Falla, Francisco Lopera, Joseph F. Arboleda‐Velásquez

2024New England Journal of Medicine57 citationsDOIOpen Access PDF

Abstract

BACKGROUND: variant is prevalent. METHODS: variant. Two participants underwent brain imaging, and autopsy was performed in four participants. RESULTS: variant. CONCLUSIONS: variant in a kindred with a high prevalence of autosomal dominant Alzheimer's disease. (Funded by Good Ventures and others.).

Topics & Concepts

Loss of heterozygosityDiseaseMedicineBiologyGeneticsPathologyAlleleGeneFolate and B Vitamins ResearchMetabolism and Genetic DisordersDiet and metabolism studies
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