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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...
Autores principales: | Kalampokini, Stefania, Georgouli, Despoina, Patrikiou, Eleni, Provatas, Antonios, Valotassiou, Varvara, Georgoulias, Panagiotis, Spanaki, Cleanthe, Hadjigeorgiou, Georgios M., Xiromerisiou, Georgia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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 |
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