KEGG   VARIANT: 10999v1
Entry
10999v1                      Variant                               
Name
FATP4 mutation
Type
Loss of function
Gene
SLC27A4  solute carrier family 27 member 4 [KO:K08745]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604194
Network
nt06545  Cornified envelope formation
Disease
H00741  Ichthyosis prematurity syndrome
Reference
PMID:19631310
  Authors
Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Torma H, Vahlquist A, Bouadjar B, Dahl N, Fischer J
  Title
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
  Journal
Am J Hum Genet 85:248-53 (2009)
DOI:10.1016/j.ajhg.2009.06.021
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