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Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics

✍ Scribed by Kimberly A. Quaid; Jill R. Murrell; Ann M. Hake; Martin R. Farlow; Bernardino Ghetti


Book ID
110273675
Publisher
Springer
Year
2000
Tongue
English
Weight
52 KB
Volume
9
Category
Article
ISSN
1059-7700

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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