KEGG   VARIANT: 1718v1
Entry
1718v1                      Variant                                
Name
DHCR24 deficiency
Type
Loss of function
Gene
DHCR24  24-dehydrocholesterol reductase [KO:K09828]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606418
Network
nt06034  Cholesterol biosynthesis
Disease
H00617  Desmosterolosis
Reference
PMID:11519011
  Authors
Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ
  Title
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
  Journal
Am J Hum Genet 69:685-94 (2001)
DOI:10.1086/323473
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