title: Junctional epidermolysis bullosa with LAMB3 splice-site mutations.
authors.affiliation: Department of Dermatology, Medical Center - University of Freiburg, Hauptstraße 7, DE-79104 Freiburg, Germany.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kiritsi
authors.forename: Laura
authors.initials: L
authors.lastname: Huilaja
authors.forename: Claus-Werner
authors.initials: CW
authors.lastname: Franzke
authors.forename: Nina
authors.initials: N
authors.lastname: Kokkonen
authors.forename: Chiara
authors.initials: C
authors.lastname: Pazzagli
authors.forename: Agnes
authors.initials: A
authors.lastname: Schwieger-Briel
authors.forename: Markku
authors.initials: M
authors.lastname: Larmas
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.forename: Kaisa
authors.initials: K
authors.lastname: Tasanen
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001706:Biopsy; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D022821:RNA Splice Sites; D012867:Skin / Q000378:metabolism / Q000648:ultrastructure; D000097794:Kalinin
chemical_list: D015815:Cell Adhesion Molecules; D005819:Genetic Markers; D022821:RNA Splice Sites; D000097794:Kalinin