title: A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.
authors.affiliation: Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
authors.forename: Nadja
authors.initials: N
authors.lastname: Chmel
authors.affiliation: Department of Dermatology, University "Iuliu Hatieganu", Cluj-Napoca, Romania.
authors.forename: Sorina
authors.initials: S
authors.lastname: Danescu
authors.affiliation: Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
authors.forename: Amelie
authors.initials: A
authors.lastname: Gruler
authors.affiliation: Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kiritsi
authors.affiliation: Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.affiliation: Department of Dermatology,Venereology, and Allergology, HELIOS St. Elisabeth Hospital Oberhausen, Oberhausen, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Kreuter
authors.affiliation: Center for Human Genetics Freiburg, Freiburg, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.affiliation: Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D000328:Adult; D001768:Blister / Q000235:genetics* / Q000503:physiopathology*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005455:Fluorescent Antibody Technique; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010510:Periodontal Diseases / Q000235:genetics* / Q000503:physiopathology*; D010787:Photosensitivity Disorders / Q000235:genetics* / Q000503:physiopathology*; D016133:Polymerase Chain Reaction / Q000379:methods; D035583:Rare Diseases; D018570:Risk Assessment; D012494:Sampling Studies
chemical_list: C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins