title: A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.
authors.affiliation: Departments of aMedical Genetics bPediatrics, Faculty of Medicine, Trakya University, Edirne, Turkey cInstitute of Human Genetics, Freiburg, Germany.
authors.forename: Hakan
authors.initials: H
authors.lastname: Gürkan
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
authors.forename: Selma
authors.initials: S
authors.lastname: Ulusal
authors.forename: Ülfet
authors.initials: Ü
authors.lastname: Vatansever
authors.forename: Britta
authors.initials: B
authors.lastname: Hartmann
authors.forename: Hilmi
authors.initials: H
authors.lastname: Tozkır
authors.forename: Nina
authors.initials: N
authors.lastname: Schlipf
authors.forename: Betül Ayşe
authors.initials: BA
authors.lastname: Acunaş
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000097:blood / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D014421:Turkey
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters