A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family

Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies have reported several novel PSEN1 mutations among Asians. In this study, a PSEN1 Val96Phe mutation was discovered in two siblings from Malaysia with a strong family history of di...

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Detalles Bibliográficos
Autores principales: Bagyinszky, Eva, Ch’ng, Gaik-Siew, Chan, Mei-Yan, An, Seong Soo A., Kim, SangYun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534005/
https://www.ncbi.nlm.nih.gov/pubmed/34679393
http://dx.doi.org/10.3390/brainsci11101328

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534005/
https://www.ncbi.nlm.nih.gov/pubmed/34679393
http://dx.doi.org/10.3390/brainsci11101328

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