title: A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa.
authors.affiliation: Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Schwieger-Briel
authors.affiliation: Department of Paediatric Dermatology, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland.|Department of Dermatology, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Weibel
authors.affiliation: Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104, Germany.
authors.forename: N
authors.initials: N
authors.lastname: Chmel
authors.affiliation: Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Leppert
authors.affiliation: Department of Dermatology, University Hospital Bern, Bern, Switzerland.
authors.forename: K
authors.initials: K
authors.lastname: Kernland-Lang
authors.affiliation: Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Grüninger
authors.affiliation: Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Has
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII