Article
Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.
The Journal of experimental medicine - 20 Apr 1998
Matsui C, Pereira P, Wang C K, Nelson C F, Kutzkey T, Lanigan C, Woodley D, Morohashi M, Welsh E A, Hoeffler W K
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering disease with both lethal and nonlethal forms, with most patients shown to have defects in laminin-5. We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotrimer in six JEB patients to determine how the type of genetic lesion influences the pathophysiology of JEB. Mutations...
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