KEGG   VARIANT: 210v1
Entry
210v1                      Variant                                 
Name
ALAD deficiency
Type
Loss of function
Gene
ALAD  aminolevulinate dehydratase [KO:K01698]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125270
Network
nt06011  Heme biosynthesis
Disease
H01763  Porphyria
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)
LinkDB

DBGET integrated database retrieval system