Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease...

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Main Authors: Doherty, Leana, Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Clinton, Catherine, Schneider, Hal E., Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Arceci, Robert J., Farrar, Jason E., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.
格式: Artigo
語言:Inglês
出版: Elsevier 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2820177/
https://ncbi.nlm.nih.gov/pubmed/20116044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.12.015
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