Article
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Journal of neuroscience research - 1 Apr 2009
Ungaro C, Mazzei R, Conforti F L, Sprovieri T, Servillo P, Liguori M, Citrigno L, Gabriele A L, Magariello A, Patitucci A, Muglia M, Quattrone A
Abstract excerpt
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. To date, more than 130 different mutations in the NOTCH3 gene have been reported in CADASIL patients, of which 95% are missense...
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