Articles with "val225ala app" as a keyword



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Different clinical and neuroimaging features of Japanese dementia siblings with a new N-terminal mutation (Val225Ala) of APP gene

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Published in 2020 at "Journal of Clinical Neuroscience"

DOI: 10.1016/j.jocn.2019.11.009

Abstract: Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene,… read more here.

Keywords: new terminal; app gene; terminal mutation; different clinical ... See more keywords