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A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer’s disease

✍ Scribed by R. Pantieri; M. Pardini; M. Cecconi; F. Dagna-Bricarelli; A. Vitali; A. Piccini; R. Russo; R. Borghi; M. Tabaton

Publisher
Springer Milan
Year
2005
Tongue
English
Weight
42 KB
Volume
26
Category
Article
ISSN
1590-1874

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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