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Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway

Mutations in ribosomal protein (RP) genes can result in the loss of erythrocyte progenitor cells and cause severe anemia. This is seen in patients with Diamond-Blackfan anemia (DBA), a pure red cell aplasia and bone marrow failure syndrome that is almost exclusively linked to RP gene haploinsufficie...

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Библиографические подробности
Опубликовано в: :PLoS Genet
Главные авторы: Antunes, Ana T., Goos, Yvonne J., Pereboom, Tamara C., Hermkens, Dorien, Wlodarski, Marcin W., Da Costa, Lydie, MacInnes, Alyson W.
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2015
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4488577/
https://ncbi.nlm.nih.gov/pubmed/26132763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005326
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