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Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient

BACKGROUND: Missense mutations in three different genes encoding amyloid-β precursor protein, presenilin 1 and presenilin 2 are recognized to cause familial early-onset Alzheimer disease. Also duplications of the amyloid precursor protein gene have been shown to cause the disease. At the Dept. of Ge...

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Detalles Bibliográficos
Autores principales: Thonberg, Håkan, Fallström, Marie, Björkström, Jenny, Schoumans, Jacqueline, Nennesmo, Inger, Graff, Caroline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3216298/
https://www.ncbi.nlm.nih.gov/pubmed/22044463
http://dx.doi.org/10.1186/1756-0500-4-476