title: The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kiritsi
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: Jemima E
authors.initials: JE
authors.lastname: Mellerio
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Claus-Werner
authors.initials: CW
authors.lastname: Franzke
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: Emma
authors.initials: E
authors.lastname: Wedgeworth
authors.affiliation: Department of Dermatology, University of Cologne, Cologne, Germany.
authors.forename: Iliana
authors.initials: I
authors.lastname: Tantcheva-Poor
authors.affiliation: Department of Dermatology, University of Bern, Bern, Switzerland.
authors.forename: Kristin
authors.initials: K
authors.lastname: Kernland-Lang
authors.affiliation: Department of Dermatology, University of Basel, Basel, Switzerland.
authors.forename: Peter
authors.initials: P
authors.lastname: Itin
authors.affiliation: Department of Medical and Molecular Genetics, King's College London, London, UK.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: GSTS Pathology, St Thomas' Hospital, London, UK.
authors.forename: Patricia J
authors.initials: PJ
authors.lastname: Dopping-Hepenstal
authors.affiliation: Department of Dermatology, Kawasaki Medical School, Okayama, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Fujimoto
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany. Electronic address: bruckner-tuderman@uniklinik-freiburg.de.
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001324:Autoantigens / Q000235:genetics*; D001768:Blister / Q000473:pathology*; D003937:Diagnosis, Differential; D004820:Epidermolysis Bullosa / Q000473:pathology*; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D024041:Non-Fibrillar Collagens / Q000235:genetics*; D010510:Periodontal Diseases / Q000473:pathology*; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000473:pathology*; D055815:Young Adult; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII