title: Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
authors.affiliation: Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, UK.
authors.forename: A C
authors.initials: AC
authors.lastname: Thomas
authors.forename: C
authors.initials: C
authors.lastname: Sinclair
authors.forename: N
authors.initials: N
authors.lastname: Mahmud
authors.forename: T
authors.initials: T
authors.lastname: Cullup
authors.forename: J E
authors.initials: JE
authors.lastname: Mellerio
authors.forename: J
authors.initials: J
authors.lastname: Harper
authors.forename: B A
authors.initials: BA
authors.lastname: Dale
authors.forename: C
authors.initials: C
authors.lastname: Turc-Carel
authors.forename: D
authors.initials: D
authors.lastname: Hohl
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: A
authors.initials: A
authors.lastname: Vahlquist
authors.forename: M
authors.initials: M
authors.lastname: Hellstrom-Pigg
authors.forename: A
authors.initials: A
authors.lastname: Ganemo
authors.forename: K
authors.initials: K
authors.lastname: Metcalfe
authors.forename: C A
authors.initials: CA
authors.lastname: Mein
authors.forename: E A
authors.initials: EA
authors.lastname: O'Toole
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000592:standards
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters