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Previously Unrecognized Missense Mutation E126K of PSEN2 Segregates with Early Onset Alzheimer's Disease in a Family

✍ Scribed by Müller, Ulrich ;Winter, Pia ;Bolender, Claus ;Nolte, Dagmar

Book ID: 121877906
Publisher: IOS Press
Year: 2014
Tongue: English
Weight: 414 KB
Volume: 42
Category: Article
ISSN: 1387-2877
DOI: 10.3233/JAD-140399

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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