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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主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2010
主題:
Report
オンライン･アクセス: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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