KEGG   VARIANT: 4524v1
Entry
4524v1                      Variant                                
Name
MTHFR deficiency
Type
Loss of function
Gene
MTHFR  methylenetetrahydrofolate reductase [KO:K25004]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607093
Network
nt06030  Methionine metabolism
nt06038  Folate metabolism
Disease
H00183  Homocystinuria
H00262  Neural tube defects, folate-sensitive
Reference
PMID:9781030
  Authors
Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ
  Title
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
  Journal
Eur J Hum Genet 6:257-65 (1998)
DOI:10.1038/sj.ejhg.5200182
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