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Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study

✍ Scribed by Natalia Acosta-Baena; Diego Sepulveda-Falla; Carlos Mario Lopera-Gómez; Mario César Jaramillo-Elorza; Sonia Moreno; Daniel Camilo Aguirre-Acevedo; Amanda Saldarriaga; Francisco Lopera


Book ID
114409710
Publisher
The Lancet
Year
2011
Tongue
English
Weight
306 KB
Volume
10
Category
Article
ISSN
1474-4465

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Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients