title: Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
authors.affiliation: Department of Dermatology, University of Cologne, 50924 Cologne, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Grimberg
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: F B
authors.initials: FB
authors.lastname: Müller
authors.forename: K
authors.initials: K
authors.lastname: Wodecki
authors.forename: C
authors.initials: C
authors.lastname: Schaffrath
authors.forename: T
authors.initials: T
authors.lastname: Krieg
authors.forename: V
authors.initials: V
authors.lastname: Oji
authors.forename: H
authors.initials: H
authors.lastname: Traupe
authors.forename: M J
authors.initials: MJ
authors.lastname: Arin
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D053556:Keratin-1 / Q000235:genetics*; D053534:Keratin-9 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D010146:Pain / Q000209:etiology; D010375:Pedigree; D012008:Recurrence; D012867:Skin / Q000737:chemistry / Q000473:pathology*
chemical_list: C491616:KRT1 protein, human; C507440:KRT9 protein, human; D053556:Keratin-1; D053534:Keratin-9