Lane E B
Department of Anatomy and Physiology, University of Dundee, UK.
Curr Opin Genet Dev. 1994 Jun;4(3):412-8. doi: 10.1016/0959-437x(94)90030-2.
The recent discovery that epidermal fragility syndromes can be caused by mutations in the genes for keratin intermediate filaments has been a turning point for research into these structural proteins. Clustering of pathogenic mutations implies differential structural sensitivity along the keratin molecule, and implications for filament function require a new look at culture assay systems, plus a reassessment of structural defects in epithelial and other tissues.
