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- [3] First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family Journal of Neurology, 2011, 258 : 1632 - 1636
- [7] First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient Neurological Sciences, 2022, 43 : 1457 - 1458