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NOTCH3 variants and risk of ischemic stroke
Ross, Owen A.; Soto-Ortolaza, Alexandra I.; Heckman, Michael G.; Verbeeck, Christophe; Serie, Daniel J.; Rayaprolu, Sruti; Rich, Stephen S.Background: Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or loss of a cysteine amino acid. The role of other exonic NOTCH3 variation not involving cysteine residues and mutations in exons 25-33 in ischemic stroke remains u...
Date: 2013
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Origin: Estudo Geral - Universidade de Coimbra