title: A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda.
authors.affiliation: Department of Medical Genetics , Osmangazi University Medical Faculty, Eskisehir 26480, Turkey. mhm@ogu.edu.tr
authors.forename: M H
authors.initials: MH
authors.lastname: Muslumanoglu
authors.forename: N
authors.initials: N
authors.lastname: Saracoglu
authors.forename: O
authors.initials: O
authors.lastname: Cilingir
authors.forename: T
authors.initials: T
authors.lastname: Basmaci
authors.forename: S
authors.initials: S
authors.lastname: Urer
authors.forename: I
authors.initials: I
authors.lastname: Sabuncu
authors.forename: S
authors.initials: S
authors.lastname: Demir
authors.forename: G
authors.initials: G
authors.lastname: Bademci
authors.forename: S
authors.initials: S
authors.lastname: Artan
mesh_terms: D000293:Adolescent; D000950:Antigens, Ly / Q000235:genetics*; D001483:Base Sequence; D003241:Consanguinity; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator