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Literature summary extracted from

  • Ahvenainen, T.; Lehtonen, H.J.; Lehtonen, R.; Vahteristo, P.; Aittomaeki, K.; Baynam, G.; Dommering, C.; Eng, C.; Gruber, S.B.; Groenberg, H.; Harvima, R.; Herva, R.; Hietala, M.; Kujala, M.; Kaeaeriaeinen, H.; Sunde, L.; Vierimaa, O.; Pollard, P.J.; Tomlinson, I.P.; Bjoerck, E.; Aaltonen, L.A.; Launonen, V.
    Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer (2008), Cancer genet. Cytogenet., 183, 83-88.
    View publication on PubMed

Application

EC Number Application Comment Organism
4.2.1.2 medicine whole-gene fumarate hydratase deletions are not a frequent cause of hereditary leiomyomatosis and renal cell cancer syndrome Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
4.2.1.2 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.2.1.2 blood
-
Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.2.1.2 fumarate + H2O
-
Homo sapiens L-malate
-
?

Synonyms

EC Number Synonyms Comment Organism
4.2.1.2 fumarase
-
Homo sapiens