title: New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
authors.affiliation: Centre for Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee, Dundee, U.K.
authors.forename: E
authors.initials: E
authors.lastname: Pohler
authors.forename: M
authors.initials: M
authors.lastname: Huber
authors.forename: S E
authors.initials: SE
authors.lastname: Boonen
authors.forename: M
authors.initials: M
authors.lastname: Zamiri
authors.forename: P A
authors.initials: PA
authors.lastname: Gregersen
authors.forename: M
authors.initials: M
authors.lastname: Sommerlund
authors.forename: M
authors.initials: M
authors.lastname: Ramsing
authors.forename: D
authors.initials: D
authors.lastname: Hohl
authors.forename: W H I
authors.initials: WH
authors.lastname: McLean
authors.forename: F J D
authors.initials: FJ
authors.lastname: Smith
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport