title: Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: K
authors.initials: K
authors.lastname: Sakai
authors.forename: A
authors.initials: A
authors.lastname: Hatamochi
authors.forename: S
authors.initials: S
authors.lastname: Yamazaki
authors.forename: J R
authors.initials: JR
authors.lastname: McMillan
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002675:Child, Preschool; D006579:Heterozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters