A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.
Akiyama
M
M
Institut für Humangenetik und Anthropologie, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany. akiyama@med.hokudai.ac.jp
Sakai
K
K
Wolff
G
G
Hausser
I
I
McMillan
J R
JR
Sawamura
D
D
Shimizu
H
H
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011379:Prognosis
C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters