Article
Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa.
The Journal of investigative dermatology - 1 Jan 2011
Murauer Eva M, Gache Yannick, Gratz Iris K, Klausegger Alfred, Muss Wolfgang, Gruber Christina, Meneguzzi Guerrino, Hintner Helmut, Bauer Johann W
Abstract excerpt
Functional defects in type VII collagen, caused by premature termination codons on both alleles of the COL7A1 gene, are responsible for the severe autosomal recessive types of the skin blistering disease, recessive dystrophic epidermolysis bullosa (RDEB). The full-length COL7A1 complementary DNA (cDNA) is about 9 kb, a size that is hardly accommodated by therapeutically used retroviral vectors. Although there...
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