KEGG   VARIANT: 5498v1
Entry
5498v1                      Variant                                
Name
PPOX deficiency
Type
Loss of function
Gene
PPOX  protoporphyrinogen oxidase [KO:K00231]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600923
Network
nt06011  Heme biosynthesis
Disease
H01763  Porphyria
Reference
PMID:8852667
  Authors
Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
  Title
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
  Journal
Hum Mol Genet 5:407-10 (1996)
DOI:10.1093/hmg/5.3.407
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