Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia

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 processe...

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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2015
Aiheet:
Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457949/
https://ncbi.nlm.nih.gov/pubmed/26046368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.022
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