Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Thomas
A C
AC
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.
Sinclair
C
C
Mahmud
N
N
Cullup
T
T
Mellerio
J E
JE
Harper
J
J
Dale
B A
BA
Turc-Carel
C
C
Hohl
D
D
McGrath
J A
JA
Vahlquist
A
A
Hellstrom-Pigg
M
M
Ganemo
A
A
Metcalfe
K
K
Mein
C A
CA
O'Toole
E A
EA
Kelsell
D P
DP
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
C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters