Article
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
Human mutation - 1 Dec 2000
Escary J L, Cécillon M, Maciazek J, Lathrop M, Tournier-Lasserve E, Joutel A
Abstract excerpt
Notch3 mutations cause CADASIL, an increasingly recognized cause of subcortical ischemic stroke and vascular dementia in human adults. In the absence of any specific diagnostic criteria, CADASIL diagnosis is based on mutational scanning of Notch3, which is a large gene composed of 33 exons with a high G-C content. In this study we examined the sensitivity of denaturing high performance liquid chromatography...
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