Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.
Emre
Serap
S
Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. semre@hacettepe.edu.tr
Unver
Neşe
N
Evans
Sibel Ersoy
SE
Yüzbaşioğlu
Ayşe
A
Gürakan
Figen
F
Gümrük
Fatma
F
Karaduman
Ayşen
A
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D013577:Syndrome
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human