KEGG   VARIANT: 59344v1
Entry
59344v1                      Variant                               
Name
ALOXE3 mutation
Type
Loss of function
Gene
ALOXE3  arachidonate epidermal lipoxygenase 3 [KO:K18684]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607206
Network
nt06545  Cornified envelope formation
Disease
H00734  Autosomal recessive congenital ichthyosis
Reference
PMID:17139268
  Authors
Lesueur F, Bouadjar B, Lefevre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J
  Title
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
  Journal
J Invest Dermatol 127:829-34 (2007)
DOI:10.1038/sj.jid.5700640
LinkDB

DBGET integrated database retrieval system