A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
Ashoor
G
G
Genetic Skin Disease Group, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospital Medical School, London, UK.
Massé
M
M
García Luciano
L M
LM
Sheffer
R
R
Martinez-Mir
A
A
Christiano
A M
AM
Zlotogorski
A
A
D018912:Arabs; D001092:Arachidonate 12-Lipoxygenase / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D022821:RNA Splice Sites; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012867:Skin / Q000378:metabolism
D022821:RNA Splice Sites; C514086:ALOX12B protein, human; D001092:Arachidonate 12-Lipoxygenase