title: Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kiritsi
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Nadja
authors.initials: N
authors.lastname: Chmel
authors.affiliation: Department of Dermatology, University Hospital Basel, Basel, Switzerland.
authors.forename: Andreas W
authors.initials: AW
authors.lastname: Arnold
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Thilo
authors.initials: T
authors.lastname: Jakob
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany.
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport; D002352:Carrier Proteins; D022821:RNA Splice Sites