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Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations

Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric symptoms and progressive memory decline and was found to carry a novel APP var...

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Detalles Bibliográficos
Autores principales: Kalampokini, Stefania, Georgouli, Despoina, Patrikiou, Eleni, Provatas, Antonios, Valotassiou, Varvara, Georgoulias, Panagiotis, Spanaki, Cleanthe, Hadjigeorgiou, Georgios M., Xiromerisiou, Georgia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622139/
https://www.ncbi.nlm.nih.gov/pubmed/34830236
http://dx.doi.org/10.3390/ijms222212355