Article
Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene.
Neurology - 25 Jul 2006
Saiki S, Sakai K, Saiki M, Kitagawa Y, Umemori T, Murata K, Matsui M, Hirose G
Abstract excerpt
No genetically diagnosed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) pedigrees with venous insufficiency have been described. In a CADASIL pedigree with varicose veins, the authors have identified a novel heterozygous mutation in the 3' splice acceptor site of intron 15 of the Notch3 gene. This, based on mRNA analysis, resulted in skipping of exon 16...
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