title: A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling-Meara epidermolysis bullosa simplex.
authors.forename: M W
authors.initials: MW
authors.lastname: Kemp
authors.forename: S
authors.initials: S
authors.lastname: Klingberg
authors.forename: L
authors.initials: L
authors.lastname: Lloyd
authors.forename: T J
authors.initials: TJ
authors.lastname: Molloy
authors.forename: P
authors.initials: P
authors.lastname: Marr
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: G A C
authors.initials: GA
authors.lastname: Murrell
authors.forename: D F
authors.initials: DF
authors.lastname: Murrell
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D053555:Keratin-5; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000032:analysis*
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5; D012333:RNA, Messenger; D007633:Keratins