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

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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Autores principales: Stefania Kalampokini, Despoina Georgouli, Eleni Patrikiou, Antonios Provatas, Varvara Valotassiou, Panagiotis Georgoulias, Cleanthe Spanaki, Georgios M. Hadjigeorgiou, Georgia Xiromerisiou
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
amyloid precursor protein
mutation
duplication
phenotype
Biology (General)
QH301-705.5
Chemistry
QD1-999
Acceso en línea:https://doaj.org/article/3669acedba894b228f0d6b2682ad7211
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https://doaj.org/article/3669acedba894b228f0d6b2682ad7211

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