A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.
Ben Selma
Zied
Z
Yilmaz
Sebnem
S
Schischmanoff
Pierre Olivier
PO
Blom
Astrid
A
Ozogul
Candan
C
Laroche
Liliane
L
Caux
Frédéric
F
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
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase