title: Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.
authors.affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.
authors.forename: Manuela
authors.initials: M
authors.lastname: Pigors
authors.affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.
authors.forename: Agnes
authors.initials: A
authors.lastname: Schwieger-Briel
authors.affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.
authors.forename: Juna
authors.initials: J
authors.lastname: Leppert
authors.affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kiritsi
authors.affiliation: Center for Human Genetics Freiburg, Freiburg, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany.
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001706:Biopsy; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C514892:EXPH5 protein, human