PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea

In this study, we report a first 226leucine (Leu) mutation to phenylalanine (Phe) in (PSEN1, CTC>TTC, L226F) in Asia from a Korean early-onset Alzheimer’s disease (EOAD) patient. Polymerase chain reaction (PCR)–single strand conformation polymorphism, sequencing, and in silico predictions were pe...

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Detalles Bibliográficos
Autores principales: Bagyinszky, Eva, Park, Sun Ah, Kim, Hyung Jun, Choi, Seong Hye, An, Seong Soo A, Kim, Sang Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066688/
https://www.ncbi.nlm.nih.gov/pubmed/27785004
http://dx.doi.org/10.2147/CIA.S111821

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066688/
https://www.ncbi.nlm.nih.gov/pubmed/27785004
http://dx.doi.org/10.2147/CIA.S111821

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