Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
Nellen
R G L
RG
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
van Geel
M
M
Steijlen
P M
PM
van Steensel
M A M
MA
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*
D000950:Antigens, Ly; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator