title: New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.
authors.forename: H
authors.initials: H
authors.lastname: Umemoto
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: T
authors.initials: T
authors.lastname: Yanagi
authors.forename: K
authors.initials: K
authors.lastname: Sakai
authors.forename: Y
authors.initials: Y
authors.lastname: Aoyama
authors.forename: A
authors.initials: A
authors.lastname: Oizumi
authors.forename: Y
authors.initials: Y
authors.lastname: Suga
authors.forename: Y
authors.initials: Y
authors.lastname: Kitagawa
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D010375:Pedigree
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense