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A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease

✍ Scribed by Anna Antonell; Mircea Balasa; Rafael Oliva; Albert Lladó; Beatriz Bosch; Neus Fabregat; Juan Fortea; José Luis Molinuevo; Raquel Sánchez-Valle


Book ID
116773116
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
419 KB
Volume
496
Category
Article
ISSN
0304-3940

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✍ Jill S. Goldman; Bruce Reed; Rosalie Gearhart; Joel H. Kramer; Bruce L. Miller 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

## Background: Early-onset familial alzheimer's disease (eofad) is linked to mutations in three autosomal dominant genes: ps1, ps2 and app. the clinical presentation and age of onset of mutations is variable. ## Objectives: The aim of this report is to describe a novel ps1 mutation believed to be