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Am J Hum Genet. 2000 Nov;67(5):1306-8. Epub 2000 Sep 19.

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

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  • 1Department of Clinical Genetics and Human Genetics, Free University Medical Center, NL-1081 BT Amsterdam, The Netherlands.


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.

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