Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

OBJECTIVE: To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which the APP A713T mutation is present in the homozygous and heterozygous state. To date, the mutation has been reported as dominant, and in the heterozygous state associated with familial AD and c...

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Publié dans:Neurology
Auteurs principaux: Conidi, Maria E., Bernardi, Livia, Puccio, Gianfranco, Smirne, Nicoletta, Muraca, Maria G., Curcio, Sabrina A.M., Colao, Rosanna, Piscopo, Paola, Gallo, Maura, Anfossi, Maria, Frangipane, Francesca, Clodomiro, Alessandra, Mirabelli, Maria, Vasso, Franca, Cupidi, Chiara, Torchia, Giusi, Di Lorenzo, Raffaele, Mandich, Paola, Confaloni, Annamaria, Maletta, Raffaele G., Bruni, Amalia C.
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4456653/
https://ncbi.nlm.nih.gov/pubmed/25948718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001648
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