Article
Fen1 mutations result in autoimmunity, chronic inflammation and cancers.
Nature medicine - 1 Jul 2007
Zheng Li, Dai Huifang, Zhou Mian, Li Mei, Singh Purnima, Qiu Junzhuan, Tsark Walter, Huang Qin, Kernstine Kemp, Zhang Xuemei, Lin Dongxin, Shen Binghui
Abstract excerpt
Functional deficiency of the FEN1 gene has been suggested to cause genomic instability and cancer predisposition. We have identified a group of FEN1 mutations in human cancer specimens. Most of these mutations abrogated two of three nuclease activities of flap endonuclease 1 (FEN1). To demonstrate the etiological significance of these somatic mutations, we inbred a mouse line harboring the E160D mutation...
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