title: Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.
authors.affiliation: Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Marieke C
authors.initials: MC
authors.lastname: Bolling
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Jan D H
authors.initials: JDH
authors.lastname: Jongbloed
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Ludolf G
authors.initials: LG
authors.lastname: Boven
authors.affiliation: Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Gilles F H
authors.initials: GFH
authors.lastname: Diercks
authors.affiliation: Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.
authors.forename: Frances J D
authors.initials: FJD
authors.lastname: Smith
authors.affiliation: Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.
authors.forename: W H
authors.initials: WH
authors.lastname: Irwin McLean
authors.affiliation: Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: m.f.jonkman@umcg.nl.
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D020125:Mutation, Missense; D051190:Plectin / Q000235:genetics*
chemical_list: C495332:PLEC protein, human; D051190:Plectin