KEGG   VARIANT: 2271v1
Entry
2271v1                      Variant                                
Name
FH deficiency
Type
Loss of function
Gene
FH  fumarate hydratase [KO:K01679]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 136850
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H02004  Fumarase deficiency
Reference
PMID:8200987
  Authors
Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P
  Title
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
  Journal
J Clin Invest 93:2514-8 (1994)
DOI:10.1172/JCI117261
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