VARIANT: 5498v1
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Entry
5498v1 Variant
Name
PPOX deficiency
Gene
PPOX
protoporphyrinogen oxidase [KO:
K00231
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
600923
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
All links
Gene (1)
OMIMVAR (1)
Literature (1)
PubMed (1)
All databases (2)
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