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Notch3 mutations and the potential for diagnostic testing for CADASIL

✍ 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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πŸ“œ SIMILAR VOLUMES


CADASIL: Extended polymorphisms and muta
✍ C. Ungaro; R. Mazzei; F.L. Conforti; T. Sprovieri; P. Servillo; M. Liguori; L. C πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 73 KB

## 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.

Pathogenesis of CADASIL : Transgenic and
✍ Anne Joutel πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 491 KB

## 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