Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is an inherited form of pure red cell aplasia that usually presents in infancy or early childhood and is associated with congenital malformations in ~30-50% of patients. DBA has been associated with mutations in nine ribosomal protein (RP) genes in about 53% of patients...

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主要な著者: Gazda, Hanna T., Preti, Milena, Sheen, Mee Rie, O’Donohue, Marie-Françoise, Vlachos, Adrianna, Davies, Stella M., Kattamis, Antonis, Doherty, Leana, Landowski, Michael, Buros, Christopher, Ghazvinian, Roxanne, Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370062/
https://ncbi.nlm.nih.gov/pubmed/22431104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22081
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