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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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea: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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