IRCCS Don Gnocchi on Muck Rack

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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

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By Fundación Jiménez Díaz, Arne De Roeck, IRCCS Don Gnocchi
| link.springer.com
Predicted LOF mutations in ABCA7 were recently put forward as intermediate-to-high penetrant risk factors for AD. To evaluate their contribution to EOAD, we sequenced the ABCA7 coding DNA of 928 European EOAD patients and 980 ethnically matched healthy control individuals. We identified ten novel patient-specific PTC mutations (frameshift, nonsense, and canonical splice mutations), and confirmed seven previously reported mutations.
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