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Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.12.019
Abstract: Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal…
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Keywords:
rpl11 deficient;
anemia;
diamond blackfan;
myc ... See more keywords