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Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer’s disease: clinical characteristics and genetic identification

✍ Scribed by Hee-Jin Kim; Hyun Young Kim; Chang-Seok Ki; Seung Hyun Kim


Publisher
Springer Milan
Year
2010
Tongue
English
Weight
139 KB
Volume
31
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