Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.
Akiyama
M
M
Sakai
K
K
Hatamochi
A
A
Yamazaki
S
S
McMillan
J R
JR
Shimizu
H
H
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002675:Child, Preschool; D006579:Heterozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters