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

The F386L 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). Eight individuals in a South Asian family provided DNA for genetic testing and underwent...

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Veröffentlicht in:	Neurology. Genetics 2022-02, Vol.8 (1), p.e647-e647
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical/Scientific Notes
Online-Zugang:	Volltext
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