KEGG   VARIANT: 3295v1
Entry
3295v1                      Variant                                
Name
HSD17B4 deficiency
Gene
HSD17B4  hydroxysteroid 17-beta dehydrogenase 4 [KO:K12405]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601860
Reference
PMID:9482850
  Authors
van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ
  Title
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
  Journal
Proc Natl Acad Sci U S A 95:2128-33 (1998)
DOI:10.1073/pnas.95.5.2128
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