title: Gelatinase expression in generalized epidermolysis bullosa simplex fibroblasts.
abstract: The use of gelatinase expression in dermal fibroblast cultures as a marker for generalized epidermolysis bullosa simplex (D-EBS-Köbner) has been tested. None of the 6 Köbner patients tested (from 3 families) produced reduced amounts of gelatinase compared with their healthy relatives and other control groups. This shows that a reduced production of gelatinase from dermal fibroblasts is not uniformly a marker for D-EBS-K.
mesh_terms: D004820:Epidermolysis Bullosa / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology; D018093:Gelatinases; D005796:Genes; D005809:Genes, Regulator; D006801:Humans; D010375:Pedigree; D010434:Pepsin A / Q000235:genetics / Q000378:metabolism / Q000502:physiology*
chemical_list: D010434:Pepsin A; D018093:Gelatinases