Articles with "val96phe mutation" as a keyword



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A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family

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Published in 2021 at "Brain Sciences"

DOI: 10.3390/brainsci11101328

Abstract: Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies have reported several novel PSEN1 mutations among Asians. In this study, a PSEN1 Val96Phe mutation was discovered in… read more here.

Keywords: mutation; psen1 val96phe; family; val96phe mutation ... See more keywords