A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.
Rajpar
S F
SF
Birmingham Children's Hospital, Department of Dermatology, Birmingham, West Midlands, and University of London, UK. sfr@blueyonder.co.uk
Cullup
T
T
Kelsell
D P
DP
Moss
C
C
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
C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; D018388:Codon, Terminator