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A case of atypical early-onset Alzheimer’s disease carrying the missense mutation Thr354Ile in exon 10 of the PSEN1 gene

✍ Scribed by Marini, Sandro; Lucidi, Giulia; Tedde, Andrea; Bessi, Valentina; Nacmias, Benedetta


Book ID
125351835
Publisher
Springer Milan
Year
2012
Tongue
English
Weight
162 KB
Volume
34
Category
Article
ISSN
1590-1874

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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