KEGG   VARIANT: 7390v1
Entry
7390v1                      Variant                                
Name
UROS deficiency
Gene
UROS  uroporphyrinogen III synthase [KO:K01719]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606938
Reference
PMID:1737856
  Authors
Warner CA, Yoo HW, Roberts AG, Desnick RJ
  Title
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
  Journal
J Clin Invest 89:693-700 (1992)
DOI:10.1172/JCI115637

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