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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Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2015
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Report
Online toegang: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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