## 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 factorβlike repeats in the extracellular domain of the Notch3 protein, thus sparing the number of cysteine residues.
β¦ LIBER β¦
Notch3 mutations and the potential for diagnostic testing for CADASIL
β Scribed by Alison M Goate; John C Morris
- Book ID
- 118562499
- Publisher
- The Lancet
- Year
- 1997
- Tongue
- English
- Weight
- 41 KB
- Volume
- 350
- Category
- Article
- ISSN
- 0140-6736
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## Abstract Small vessel diseases (SVDs) of the brain are the leading cause of vascular cognitive impairment and a major contributor to stroke in the human adult, however, their pathogenesis is poorly understood. Dominant mutations in __NOTCH3__ cause CADASIL, one of the most prevalent inherited ce