title: A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.
authors.forename: Zied
authors.initials: Z
authors.lastname: Ben Selma
authors.forename: Sebnem
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Pierre Olivier
authors.initials: PO
authors.lastname: Schischmanoff
authors.forename: Astrid
authors.initials: A
authors.lastname: Blom
authors.forename: Candan
authors.initials: C
authors.lastname: Ozogul
authors.forename: Liliane
authors.initials: L
authors.lastname: Laroche
authors.forename: Frédéric
authors.initials: F
authors.lastname: Caux
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D004817:Epidermis / Q000378:metabolism; D004950:Esterases / Q000235:genetics*; D005260:Female; D006098:Granulocytes / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007223:Infant; D015603:Keratinocytes / Q000378:metabolism; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome; D014421:Turkey
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase