title: Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Shimizu
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.forename: Yumi
authors.initials: Y
authors.lastname: Aoyama
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ogawa
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Hitomi
authors.forename: Keiji
authors.initials: K
authors.lastname: Iwatsuki
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters