title: Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. semre@hacettepe.edu.tr
authors.forename: Serap
authors.initials: S
authors.lastname: Emre
authors.forename: Neşe
authors.initials: N
authors.lastname: Unver
authors.forename: Sibel Ersoy
authors.initials: SE
authors.lastname: Evans
authors.forename: Ayşe
authors.initials: A
authors.lastname: Yüzbaşioğlu
authors.forename: Figen
authors.initials: F
authors.lastname: Gürakan
authors.forename: Fatma
authors.initials: F
authors.lastname: Gümrük
authors.forename: Ayşen
authors.initials: A
authors.lastname: Karaduman
mesh_terms: 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
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human