Article
Clinical spectrum in CADASIL family with a new mutation.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia - 1 Dec 2013
Peisker Tomas, Musil Libor, Hrebicek Martin, Vlaskova Hana, Cihelkova Ilona, Bartos Ales
Abstract excerpt
BACKGROUND: Clinical presentation of CADASIL patients is variable due to the impact of other vascular risk factors and the type of a NOTCH3 mutation. This variability may impede the diagnosis of the disease. SUBJECTS AND METHODS: We report a comprehensive evaluation of several individuals in the CADASIL family whose member was identified to have the new mutation of NOTCH3 receptor on exon 6 (p. G296C). We...
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