| Literature DB >> 11001585 |
J P de Winter1, F Léveillé, C G van Berkel, M A Rooimans, L van Der Weel, J Steltenpool, I Demuth, N V Morgan, N Alon, L Bosnoyan-Collins, J Lightfoot, P A Leegwater, Q Waisfisz, K Komatsu, F Arwert, J C Pronk, C G Mathew, M Digweed, M Buchwald, H Joenje.
Abstract
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.Entities:
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Year: 2000 PMID： 11001585 PMCID： PMC1288571 DOI： 10.1016/S0002-9297(07)62959-0
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025