Article
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics - 1 Nov 1996
Lo Ten Foe J R, Rooimans M A, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen D F, Savoia A, Cheng N C, van Berkel C G, Strunk M H, Gille J J, Pals G, Kruyt F A, Pronk J C, Arwert F, Buchwald M, Joenje H
Abstract excerpt
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 cancer. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic and cytotoxic effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C...
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