title: Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.
authors.forename: Takuya
authors.initials: T
authors.lastname: Takeichi
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Matsuda
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kono
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002454:Cell Differentiation; D004252:DNA Mutational Analysis; D005260:Female; D006197:Hair; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000188:drug therapy / Q000235:genetics*; D007223:Infant; D008055:Lipids / Q000737:chemistry; D010641:Phenotype; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis; D012176:Retinoids / Q000627:therapeutic use; D017384:Sequence Deletion; D012867:Skin / Q000473:pathology*
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; D008055:Lipids; D012333:RNA, Messenger; D012176:Retinoids