Genetic study of the NOTCH3 gene in CADASIL patients

ConclusionWe found four novel mutations (P109T, P203H, IVS7 + 15A>G and IVS7 + 16A>G) and 2 reported NOTCH3 mutations. Exon 4 and Intron 7 are hotspots in the patients we examined with the NOTCH3 mutations. These findings broaden the mutational spectrum of CADASIL.
Source: Egyptian Journal of Medical Human Genetics - Category: Genetics & Stem Cells Source Type: research