KEGG   VARIANT: 4594v1
Entry
4594v1                      Variant                                
Name
MMUT deficiency
Gene
MMUT  methylmalonyl-CoA mutase [KO:K01847]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609058
Network
nt06024  Valine, leucine and isoleucine degradation
nt06538  Cobalamin transport and metabolism
Disease
H00174  Methylmalonic aciduria
Reference
PMID:1977311
  Authors
Jansen R, Ledley FD
  Title
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
  Journal
Am J Hum Genet 47:808-14 (1990)
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