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A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer’s disease

BACKGROUND: Autosomal dominant early-onset Alzheimer’s disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). Most frequent cases are associated with mutation...

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Detalles Bibliográficos
Autores principales: Giau, Vo Van, Pyun, Jung-Min, Bagyinszky, Eva, An, Seong Soo A, Kim, SangYun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074827/
https://www.ncbi.nlm.nih.gov/pubmed/30104866
http://dx.doi.org/10.2147/CIA.S170374