KEGG   VARIANT: 210v1
Entry
210v1                      Variant                                 
Name
ALAD deficiency
Gene
ALAD  aminolevulinate dehydratase [KO:K01698]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125270
Reference
PMID:2063868
  Authors
Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ
  Title
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
  Journal
Am J Hum Genet 49:167-74 (1991)

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