Article
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
American journal of human genetics - 4 Jun 2015
Hira Asuka, Yoshida Kenichi, Sato Koichi, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Shimamoto Akira, Tahara Hidetoshi, Ito Etsuro, Kojima Seiji, Kurumizaka Hitoshi, Ogawa Seishi, Takata Minoru, Yabe Hiromasa, Yabe Miharu
Abstract excerpt
Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate repair processes of interstrand crosslinks and/or DNA adducts generated by endogenous aldehydes. The UBE2T E2 ubiquitin conjugating...
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