title: Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
authors.affiliation: Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
authors.forename: N J
authors.initials: NJ
authors.lastname: Wilson
authors.affiliation: Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.|Division of Computational Biology, School of Life Sciences, University of Dundee, Dundee, U.K.
authors.forename: C
authors.initials: C
authors.lastname: Cole
authors.affiliation: Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
authors.forename: K
authors.initials: K
authors.lastname: Kroboth
authors.affiliation: Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
authors.forename: W N
authors.initials: WN
authors.lastname: Hunter
authors.affiliation: Department of Dermatology, Oregon Health & Sciences University, Portland, OR, U.S.A.|Division of Dermatology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, U.S.A.
authors.forename: J A
authors.initials: JA
authors.lastname: Mann
authors.affiliation: Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
authors.forename: W H I
authors.initials: WH
authors.lastname: McLean
authors.affiliation: Department of Dermatology, University Hospital-Inselspital Bern, University of Bern, Bern, Switzerland.
authors.forename: K
authors.initials: K
authors.lastname: Kernland Lang
authors.affiliation: Department of Dermatology, University Hospital-Inselspital Bern, University of Bern, Bern, Switzerland.
authors.forename: H
authors.initials: H
authors.lastname: Beltraminelli
authors.affiliation: Department of Dermatology, Royal Hallamshire Hospital, Sheffield, U.K.
authors.forename: R A
authors.initials: RA
authors.lastname: Sabroe
authors.affiliation: Department of Histopathology, Royal Hallamshire Hospital, Sheffield, U.K.
authors.forename: N
authors.initials: N
authors.lastname: Tiffin
authors.affiliation: Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, U.K.
authors.forename: G J
authors.initials: GJ
authors.lastname: Sobey
authors.affiliation: Department of Dermatology, University Hospital-Inselspital Bern, University of Bern, Bern, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Borradori
authors.affiliation: Department of Dermatology, Oregon Health & Sciences University, Portland, OR, U.S.A.
authors.forename: E
authors.initials: E
authors.lastname: Simpson
authors.affiliation: Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.|Pachyonychia Congenita Project, Salt Lake City, UT, U.S.A.
authors.forename: F J D
authors.initials: FJ
authors.lastname: Smith
mesh_terms: D000368:Aged; D005260:Female; D005964:Glucosyltransferases / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*; D017444:Skin Diseases, Papulosquamous / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005964:Glucosyltransferases; C510651:POGLUT1 protein, human