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Alzheimer's Disease Associated with the F105L Mutation in the Presenilin 1 (PSEN1) Gene

✍ Scribed by Ghetti, Bernardino; Hagen, Matthew C.; Murrell, Jill R.; Takao, Masaki; Piccardo, Pedro; Glazier, Bradley S.; Epperson, Francine; Spina, Salvatore; Rentz, Clarissa


Book ID
122924891
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
64 KB
Volume
6
Category
Article
ISSN
1552-5260

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Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A4