Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Diamond-Blackfan anemia (DBA), a congenital bone-marrow-failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retarda...

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Detalhes bibliográficos
Principais autores: Gazda, Hanna T., Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Schneider, Hal, Darras, Natasha, Hasman, Catherine, Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Zaucha, Jan M., Glader, Bertil, Niemeyer, Charlotte, Meerpohl, Joerg J., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668101/
https://ncbi.nlm.nih.gov/pubmed/19061985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.11.004
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