1. Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients 
Marieke C. Bolling, Jan D.H. Jongbloed, Ludolf G. Boven, Gilles F.H. Diercks, Frances J.D. Smith, W.H. Irwin McLean, Marcel F. Jonkman 
Journal of Investigative Dermatology 
Volume 134, Issue 1, Pages (January 2014)
DOI: /jid
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2. Figure 1
Epidermolysis bullosa simplex due to dominant PLEC mutations. (a) Patients 5 (left) and 6 (right) had hemorrhagic and serous blisters (arrows) on the foot and thickening discolored toenails. (b) Plectin staining with antibody 10F6 of control (left), proband 1 with Ogna mutation (middle), and proband 5 with C-terminal mutation (right) reveals that the Ogna mutation reduces staining, especially in the basal cell layer (arrows), more than the C-terminal mutation does. Bar=50 μm. (c) Schematic representation of the plectin protein with the mutations depicted below the protein. GenBank accession number NM_
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions