title: In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.
authors.affiliation: Department of Dermatology, University of Groningen, University Medical Center Groningen, 9700RB Groningen, The Netherlands. k.gostynska@umcg.nl.
authors.forename: Katarzyna B
authors.initials: KB
authors.lastname: Gostyńska
authors.forename: Jeroen
authors.initials: J
authors.lastname: Bremer
authors.forename: Krista K
authors.initials: KK
authors.lastname: van Dijk-Bos
authors.forename: Richard
authors.initials: R
authors.lastname: Sinke
authors.forename: Anna Maria G
authors.initials: AM
authors.lastname: Pasmooij
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007438:Introns; D053555:Keratin-5 / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D053555:Keratin-5