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NOTCH3 gene mutations in subjects clinically suspected of CADASIL

✍ Scribed by Lorena Mosca; Raffaella Marazzi; Alfonso Ciccone; Ignazio Santilli; Anna Bersano; Valeria Sansone; Enrico Grosso; Giorgia Mandrile; Daniela Francesca Giachino; Laura Adobbati; Elisabetta Corengia; Elio Agostoni; Anna Fiumani; Salvatore Gallone; Elio Scarpini; Mario Guidotti; Roberto Sterzi; Clara Ajmone; Alessandro Marocchi; Silvana Penco

Book ID
119304086
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
263 KB
Volume
307
Category
Article
ISSN
0022-510X

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CADASIL: Extended polymorphisms and muta
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## Abstract CADASIL is a cerebrovascular disease caused by mutations in the NOTCH3 gene. Most mutations result in a gain or loss of cysteine residue in one of the 34 epidermal growth factor‐like repeats in the extracellular domain of the Notch3 protein, thus sparing the number of cysteine residues.