KEGG   VARIANT: 25974v1
Entry
25974v1                      Variant                               
Name
MMACHC deficiency
Type
Loss of function
Gene
MMACHC  metabolism of cobalamin associated C [KO:K14618]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609831
Network
nt06538  Cobalamin transport and metabolism
Disease
H02221  Methylmalonic aciduria and homocystinuria
Reference
PMID:20631720
  Authors
Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Qi Y, Hsiao KJ, Liu TT
  Title
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
  Journal
J Hum Genet 55:621-6 (2010)
DOI:10.1038/jhg.2010.81
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