Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

BACKGROUND: Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic trans...

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Autors principals: Quarello, Paola, Garelli, Emanuela, Carando, Adriana, Brusco, Alfredo, Calabrese, Roberto, Dufour, Carlo, Longoni, Daniela, Misuraca, Aldo, Vinti, Luciana, Aspesi, Anna, Biondini, Laura, Loreni, Fabrizio, Dianzani, Irma, Ramenghi, Ugo
Format: Artigo
Idioma:Inglês
Publicat: Ferrata Storti Foundation 2010
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2817022/
https://ncbi.nlm.nih.gov/pubmed/19773262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.011783
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