title: Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
authors.affiliation: Department of Dermatology, University Hospital Maastricht, and GROW Research School, University of Maastricht, PO Box 5800, 6202 AZ Maastricht, the Netherlands. rnel@sder.azm.nl
authors.forename: R G L
authors.initials: RG
authors.lastname: Nellen
authors.forename: M
authors.initials: M
authors.lastname: van Geel
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: M A M
authors.initials: MA
authors.lastname: van Steensel
mesh_terms: D000293:Adolescent; D000950:Antigens, Ly / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009812:Odorants; D010375:Pedigree; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator