KEGG   VARIANT: 226v1
Entry
226v1                      Variant                                 
Name
ALDOA deficiency
Gene
ALDOA  aldolase, fructose-bisphosphate A [KO:K01623]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 103850
Network
nt06017  Glycogen metabolism
Disease
H01952  Glycogen storage disease type XII
Reference
PMID:2825199
  Authors
Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K
  Title
Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.
  Journal
Proc Natl Acad Sci U S A 84:8623-7 (1987)
DOI:10.1073/pnas.84.23.8623
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