Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family.
Kurban
M
M
Shimomura
Y
Y
Bahhady
R
R
Ghosn
S
S
Kibbi
A-G
AG
Christiano
A M
AM
D001092:Arachidonate 12-Lipoxygenase / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007231:Infant, Newborn; D007861:Lebanon; D008297:Male; D010375:Pedigree
D018389:Codon, Nonsense; C514086:ALOX12B protein, human; D001092:Arachidonate 12-Lipoxygenase