title: Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.
authors.forename: E
authors.initials: E
authors.lastname: Rashidghamat
authors.affiliation: Viapath, St Thomas' Hospital, London, U.K.
authors.forename: L
authors.initials: L
authors.lastname: Ozoemena
authors.affiliation: Viapath, St Thomas' Hospital, London, U.K.
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Department of Dermatology, Great Ormond Street for Children NHS Foundation Trust, London, U.K.
authors.forename: A E
authors.initials: AE
authors.lastname: Martinez
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.|Department of Dermatology, Great Ormond Street for Children NHS Foundation Trust, London, U.K.
authors.forename: J E
authors.initials: JE
authors.lastname: Mellerio
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D035781:Siblings
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C514892:EXPH5 protein, human