title: A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation.
authors.affiliation: Department of Dermatology, Fraternity Memorial Hospital, Tokyo, Japan. hattori-tky@umin.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Hattori
authors.forename: M
authors.initials: M
authors.lastname: Komine
authors.forename: T
authors.initials: T
authors.lastname: Kaneko
authors.forename: K
authors.initials: K
authors.lastname: Shimazu
authors.forename: Y
authors.initials: Y
authors.lastname: Tsunemi
authors.forename: M
authors.initials: M
authors.lastname: Koizumi
authors.forename: J
authors.initials: J
authors.lastname: Goto
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D020816:Amino Acid Motifs; D002648:Child; D017124:Conserved Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D053530:Keratins, Type I / Q000235:genetics*; D020125:Mutation, Missense; D011110:Polymorphism, Genetic
chemical_list: D053530:Keratins, Type I