Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease

OBJECTIVES: The F386L PSEN1 variant has been reported in 1 Japanese family with limited clinical information. We aimed to prove that F386L is pathogenic by demonstrating that it segregates with early-onset Alzheimer disease (AD). METHODS: Eight individuals in a South Asian family provided DNA for ge...

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Detalles Bibliográficos
Autores principales: Eger, Sarah J., Le Guen, Yann, Khan, Raiyan R., Hall, Jacob N., Kennedy, Gabriel, Zaharchuk, Greg, Couthouis, Julien, Brooks, William S., Velakoulis, Dennis, Napolioni, Valerio, Belloy, Michaël E., Dalgard, Clifton L., Mormino, Elizabeth C., Gitler, Aaron D., Greicius, Michael D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Clinical/Scientific Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8655848/
https://www.ncbi.nlm.nih.gov/pubmed/34901437
http://dx.doi.org/10.1212/NXG.0000000000000647

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