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The main role of FA proteins is in the repair of DNA interstrand crosslinks (ICLs). FA results from pathogenic variants in at least sixteen distinct genes, causing genomic instability. Although the highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, diagnosis based on a profound sensitivity to DNA\u2010crosslinking agents can be used to identify the pre\u2010anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. Diepoxybutane (DEB) analysis is the preferred test for FA because other agents have higher rates of false\u2010positive and false\u2010negative results. \u00a9 2015 by John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/0471142905.hg0807s85","type":"journal-article","created":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T21:26:47Z","timestamp":1428010007000},"source":"Crossref","is-referenced-by-count":45,"title":["Diagnosis of Fanconi Anemia by Diepoxybutane Analysis"],"prefix":"10.1002","volume":"85","author":[{"given":"Arleen D.","family":"Auerbach","sequence":"first","affiliation":[{"name":"Program in Human Genetics and Hematology, The Rockefeller University  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4]]},"reference":[{"key":"e_1_2_8_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1083"},{"key":"e_1_2_8_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22397"},{"key":"e_1_2_8_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508124102"},{"key":"e_1_2_8_1_5_1","first-page":"731","article-title":"Fanconi anemia diagnosis and the diepoxybutane (DEB) test","volume":"21","author":"Auerbach A.D.","year":"1993","journal-title":"Exp. 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