[PDF][PDF] Isolation of a cDNA representing the Fanconi anemia complementation group E gene
JP De Winter, F Léveillé, CGM Van Berkel… - The American Journal of …, 2000 - cell.com
JP De Winter, F Léveillé, CGM Van Berkel, MA Rooimans, L Van Der Weel, J Steltenpool…
The American Journal of Human Genetics, 2000•cell.comFanconi 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.
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.
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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