KEGG   VARIANT: 6718v1
Entry
6718v1                      Variant                                
Name
AKR1D1 deficiency
Gene
AKR1D1  aldo-keto reductase family 1 member D1 [KO:K00251]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604741
Reference
  Authors
Drury JE, Mindnich R, Penning TM
  Title
Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
  Journal
J Biol Chem 285:24529-37 (2010)
DOI:10.1074/jbc.M110.127779
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