Abstract
We report a novel mutation in the amyloid precursor protein gene (APP 1716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s. Cells transfected with cDNAs bearing this mutation produce more Aβ1-42(43) than those transfected with wild-type APP and this effect is additive with that of the previously reported APP V7171 mutation thus providing a novel approach for further increasing Aβ1-42(43) in model systems.
Original language | English (US) |
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Pages (from-to) | 2087-2089 |
Number of pages | 3 |
Journal | Human molecular genetics |
Volume | 6 |
Issue number | 12 |
DOIs | |
State | Published - Nov 1997 |
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Genetics(clinical)