KEGG   VARIANT: 3145v1
Entry
3145v1                      Variant                                
Name
HMBS deficiency
Gene
HMBS  hydroxymethylbilane synthase [KO:K01749]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609806
Disease
H01763  Porphyria
Reference
PMID:2243128
  Authors
Delfau MH, Picat C, de Rooij FW, Hamer K, Bogard M, Wilson JH, Deybach JC, Nordmann Y, Grandchamp B
  Title
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
  Journal
J Clin Invest 86:1511-6 (1990)
DOI:10.1172/JCI114869

  All links  
Disease (1)   
   KEGG DISEASE (1)   
Gene (1)   
   OMIMVAR (1)   
Literature (1)   
   PubMed (1)   
All databases (3)   

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