| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6807166 | Neurobiology of Aging | 2013 | 4 Pages |
Abstract
This is the first report of an aberrant splicing event of the NOTCH3 gene associated with a mutation far away from the canonical splice site. Our finding suggests that the assays used to evaluate splicing should be mandatory in the diagnostic setting of genetically undefined CADASIL cases.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Ageing
Authors
Silvia Bianchi, Maria Teresa Dotti, Gian Nicola Gallus, Camilla D'Eramo, Ilaria Di Donato, Livia Bernardi, Raffaele Maletta, Gianfranco Puccio, Amalia C. Bruni, Antonio Federico,