KEGG   VARIANT: 84693v1
Entry
84693v1                      Variant                               
Name
MCEE deficiency
Gene
MCEE  methylmalonyl-CoA epimerase [KO:K05606]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608419
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00174  Methylmalonic aciduria
Reference
PMID:16752391
  Authors
Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M
  Title
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
  Journal
Hum Mutat 27:640-3 (2006)
DOI:10.1002/humu.20373
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