Article
Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy.
Neuroscience letters - 11 May 2007
Ungaro Carmine, Sprovieri Teresa, Conforti Francesca L, Muglia Maria, Patitucci Alessandra, Magariello Angela, Gabriele Anna L, Quattrone Aldo, Mazzei Rosalucia
Abstract excerpt
The aim of this study was to investigate the possible role of JAG1 gene mutations in modulating clinical features in patients with CADASIL-like phenotype which resulted negative for NOTCH3 gene mutations. Sixty-six CADASIL-like patients without NOTCH3 gene mutations were investigated for 5 out of 26 exons of the JAG1 gene, whose mutations were implicated in central nervous system vascular abnormalities. PCR was...
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