TY - JOUR
T1 - Isolation of a cDNA representing the fanconi anemia complementation group E gene
AU - De Winter, Johan P.
AU - Léveillé, France
AU - Van Berkel, Carola G.M.
AU - Rooimans, Martin A.
AU - Van Der Weel, Laura
AU - Steltenpool, Jurgen
AU - Demuth, Ilja
AU - Morgan, Neil V.
AU - Alon, Noa
AU - Bosnoyan-Collins, Lucine
AU - Lightfoot, Jeff
AU - Leegwater, Peter A.
AU - Waisfisz, Quinten
AU - Komatsu, Kenshi
AU - Arwert, Fré
AU - Pronk, Jan C.
AU - Mathew, Christopher G.
AU - Digweed, Martin
AU - Buchwald, Manuel
AU - Joenje, Hans
N1 - Funding Information: We thank the families for participating, and we thank C. Altay, G. R. Evans, and W. Ebell for referring patients. Financial support was from the Dutch Cancer Society (VU-97-1565), the Fanconi Anemia Research Fund, Inc., the FA patient support organizations in Europe, the Commission of the European Union (contracts PL931562 and BMH4-98-3784), the Medical Research Council of Canada, and the National Institutes of Health (grant HL50131).
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0033759693&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/S0002-9297(07)62959-0
DO - https://doi.org/10.1016/S0002-9297(07)62959-0
M3 - Article
C2 - 11001585
SN - 0002-9297
VL - 67
SP - 1306
EP - 1308
JO - American journal of human genetics
JF - American journal of human genetics
IS - 5
ER -