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Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease

We have identified a novel β amyloid precursor protein (βAPP) mutation (V715M-βAPP770) that cosegregates with early-onset Alzheimer’s disease (AD) in a pedigree. Unlike other familial AD-linked βAPP mutations reported to date, overexpression of V715M-βAPP in human HEK293 cells and murine neurons red...

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Detalhes bibliográficos
Main Authors: Ancolio, K., Dumanchin, C., Barelli, H., Warter, J. M., Brice, A., Campion, D., Frébourg, T., Checler, F.
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences 1999
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC22430/
https://ncbi.nlm.nih.gov/pubmed/10097173
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