Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocyctic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present...

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Auteurs principaux: Landowski, Michael, O’Donohue, Marie-Françoise, Buros, Christopher, Ghazvinian, Roxanne, Montel-Lehry, Nathalie, Vlachos, Adrianna, Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Atsidaftos, Eva, Lipton, Jeffrey M., Beggs, Alan H., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.
Format: Artigo
Langue:Inglês
Publié: 2013
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3797874/
https://ncbi.nlm.nih.gov/pubmed/23812780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1326-z
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