KEGG   VARIANT: 1371v1
Entry
1371v1                      Variant                                
Name
CPOX deficiency
Gene
CPOX  coproporphyrinogen oxidase [KO:K00228]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612732
Reference
  Authors
Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH
  Title
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
  Journal
Am J Hum Genet 68:1130-8 (2001)
DOI:10.1086/320118

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