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A cell-based model for presenilin 1 early-onset familial Alzheimer's disease (EOFAD): Dominant negative effects and relative stabilities of presenilin 1 with EOFAD mutations

✍ Scribed by Anthony Stevens; Carolyn Collins; Evan Katz; Gary Lee; Vernon Alford; Hadis Williams; Darlene Guillen; Xiaoyang Wu; John Flanagan; Eric Sjoberg; Sam Gandy; David J. Lockhart; Brandon Wustman; LB Dungan


Book ID
118468574
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
61 KB
Volume
8
Category
Article
ISSN
1552-5260

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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