KEGG   VARIANT: 3939v1
Entry
3939v1                      Variant                                
Name
LDHA deficiency
Type
Loss of function
Gene
LDHA  lactate dehydrogenase A [KO:K00016]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 150000
Network
nt06017  Glycogen metabolism
Disease
H01946  Glycogen storage disease type XI
Reference
PMID:2334430
  Authors
Maekawa M, Sudo K, Kanno T, Li SS
  Title
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
  Journal
Biochem Biophys Res Commun 168:677-82 (1990)
DOI:10.1016/0006-291X(90)92374-9
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