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Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2

Mutations in presenilin 2 are rare causes of early onset familial Alzheimer’s disease. Eighteen presenilin 2 mutations have been reported, although not all have been confirmed pathogenic. Much remains to be learned about the range of phenotypes associated with these mutations. We have analysed our u...

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Autores principales: Jayadev, Suman, Leverenz, James B., Steinbart, Ellen, Stahl, Justin, Klunk, William, Yu, Cheng-En, Bird, Thomas D.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2850581/
https://ncbi.nlm.nih.gov/pubmed/20375137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq033
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