Article
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
Genetic testing and molecular biomarkers - 1 Oct 2009
van den Akker Peter C, Hettema Wendy, Meijer Rowdy, Jonkman Marcel F, Hofstra Robert M W, Scheffer Hans
Abstract excerpt
Dystrophic epidermolysis bullosa is a heritable skin disease in which blisters occur because of a defect in type VII collagen resulting from mutations in the COL7A1 gene that is composed of 118 exons. Although a few mutations are specific to certain populations owing to founder effects, and although a few mutational hotspots exist, most mutations are unique to families and can be found scattered throughout the...
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