title: A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.
authors.affiliation: Institut für Humangenetik und Anthropologie, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany. akiyama@med.hokudai.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: K
authors.initials: K
authors.lastname: Sakai
authors.forename: G
authors.initials: G
authors.lastname: Wolff
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: J R
authors.initials: JR
authors.lastname: McMillan
authors.forename: D
authors.initials: D
authors.lastname: Sawamura
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011379:Prognosis
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters