title: A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.
abstract: Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8 qter, and recently mutations in the ARS (component B) gene have been identified in families with this disorder. We describe a small family of Turkish origin with Mal de Meleda and identified a novel homozygous mutation, L98P, in ARS (component B). These findings extend the body of evidence implicating mutations in the ARS (component B) gene in Mal de Meleda.
authors.affiliation: Department of Dermatology, Akdeniz University, Antalya, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: Yerebakan
authors.forename: G
authors.initials: G
authors.lastname: Hu
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: J T
authors.initials: JT
authors.lastname: Celebi
mesh_terms: D000950:Antigens, Ly / Q000235:genetics*; D053501:Arsenite Transporting ATPases; D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016623:Ion Pumps / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; D016623:Ion Pumps; D009097:Multienzyme Complexes; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator; D053501:Arsenite Transporting ATPases