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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Main Authors: 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.
Format: Artigo
Language:Inglês
Published: 2012
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Online Access: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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