ABSTRACT
This discovery was another contribution of the laboratory of M. De Luca and G. Pellegrini (Mavilio et al., 2006). They studied a severe genetically determined blistering disease of the skin — Junctional Epidermolysis Bullosa. The patient they studied was a double heterozygote containing a frame shift/single point mutation in the gene for Laminin 5-β3, which links basal epidermal cells to the basement membrane.
