KEGG   VARIANT: 7389v1
Entry
7389v1                      Variant                                
Name
UROD deficiency
Type
Loss of function
Gene
UROD  uroporphyrinogen decarboxylase [KO:K01599]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613521
Network
nt06011  Heme biosynthesis
Disease
H01763  Porphyria
Reference
PMID:8644733
  Authors
Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taieb A, Topi G, D'Alessandro L, de Verneuil H
  Title
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
  Journal
Am J Hum Genet 58:712-21 (1996)
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