Article
IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Sept 1997
Kuster J E, Guarnieri M H, Ault J G, Flaherty L, Swiatek P J
Abstract excerpt
The laminin-5 molecule functions in the attachment of various epithelia to basement membranes. Mutations in the laminin-5-coding genes have been associated with Herlitz junctional epidermolysis bullosa (HJEB), a severe and often lethal blistering disease of humans. Here we report the characterization of a spontaneous mouse mutant with an autosomal recessive blistering disease. These mice exhibit sub-epithelial...
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