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Letter

Nature Genetics 14, 320–323 (1 November 1996) | doi:10.1038/ng1196-320

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

Jerome R. Lo Ten Foe , Martin A. Rooimans , Lucine Bosnoyan-Collins , Noa Alon , Mario Wijker , Linda Parker , Jeff Lightfoot , Madeleine Carreau , David F. Callen , Anna Savoia , Ngan C. Cheng , Carola G.M. van Berkel , Mark H.P. Strunk , Johan J.P. Gille , Gerard Pals , Frank A.E. Kruyt , Jan C. Pronk , Fr|[eacute]| Arwert , Manuel Buchwald & Hans Joenje

Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone marrow failure and a marked predisposition to cancer1–4. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic5 and cytotoxic6 effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C (MMC).