Article
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
Neurology - 2 Jun 2015
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
Abstract excerpt
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 an...
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