Article
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
The Journal of molecular diagnostics : JMD - 1 Nov 2009
Vermeer Sascha, Meijer Rowdy P P, Hofste Tom G J, Bodmer Daniëlle, Bosgoed Ermanno A J, Cremers Frans P M, Kremer Berry H P, Knoers Nine V A M, Scheffer Hans
Abstract excerpt
In this study, we developed and analytically validated a fully automated, robust confirmation sensitive capillary electrophoresis (CSCE) method to perform mutation scanning of the large SACS gene. This method facilitates a rapid and cost-effective molecular diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Critical issues addressed during the development of the CSCE system included the...
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