title: A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.
authors.affiliation: Birmingham Children's Hospital, Department of Dermatology, Birmingham, West Midlands, and University of London, UK. sfr@blueyonder.co.uk
authors.forename: S F
authors.initials: SF
authors.lastname: Rajpar
authors.forename: T
authors.initials: T
authors.lastname: Cullup
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
authors.forename: C
authors.initials: C
authors.lastname: Moss
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D018389:Codon, Nonsense; D018388:Codon, Terminator; D005838:Genotype; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; D018388:Codon, Terminator