A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.
AuthorsLane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA
JournalNature
PubMed ID1372711
In the hereditary blistering condition epidermolysis bullosa simplex, the skin blisters on trauma following rupture of epidermal basal cells. Clinical variations range from severely incapacitating, especially in early childhood, to mild forms that may not even present clinically. Dowling-Meara epidermolysis bullosa simplex is characterized by clusters of epidermal blisters and ... More