title: Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Yinghong
authors.initials: Y
authors.lastname: He
authors.forename: Juna
authors.initials: J
authors.lastname: Leppert
authors.forename: Holger
authors.initials: H
authors.lastname: Steinke
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D001324:Autoantigens / Q000235:genetics / Q000378:metabolism; D018389:Codon, Nonsense; D000071821:Dystonin / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000378:metabolism; D005353:Fibronectins / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D019012:Integrin beta1 / Q000378:metabolism; D015603:Keratinocytes / Q000378:metabolism; D007633:Keratins / Q000235:genetics; D008297:Male; D024041:Non-Fibrillar Collagens / Q000235:genetics / Q000378:metabolism; D020033:Protein Isoforms / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism*; D017384:Sequence Deletion; D055815:Young Adult; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D018389:Codon, Nonsense; D000071821:Dystonin; D005353:Fibronectins; D019012:Integrin beta1; D007633:Keratins; D024041:Non-Fibrillar Collagens; D020033:Protein Isoforms; D012333:RNA, Messenger; D000097805:Collagen Type XVII; C486268:DST protein, human