Literature summary for 4.2.1.2 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.

Application

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

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

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

Synonyms	Comment	Organism
fumarase	-	Homo sapiens

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Release 2023.1 (January 2023)