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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Isolation of a cDNA representing the Fanconi anemia complementation group E gene.

Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes ( FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals.[1]


  1. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. de Winter, J.P., Léveillé, F., van Berkel, C.G., Rooimans, M.A., van Der Weel, L., Steltenpool, J., Demuth, I., Morgan, N.V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P.A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J.C., Mathew, C.G., Digweed, M., Buchwald, M., Joenje, H. Am. J. Hum. Genet. (2000) [Pubmed]
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