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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...
Autores principales: | Bagyinszky, Eva, Park, Sun Ah, Kim, Hyung Jun, Choi, Seong Hye, An, Seong Soo A, Kim, Sang Yun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2016
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Materias: | |
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 |
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