Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, congenital abnormalities, and cancer predisposition. Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients. We used a candidate gene strategy combini...

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Detalhes bibliográficos
Main Authors: Farrar, Jason E., Nater, Michelle, Caywood, Emi, McDevitt, Michael A., Kowalski, Jeanne, Takemoto, Clifford M., Talbot, C. Conover, Meltzer, Paul, Esposito, Diane, Beggs, Alan H., Schneider, Hal E., Grabowska, Agnieszka, Ball, Sarah E., Niewiadomska, Edyta, Sieff, Colin A., Vlachos, Adrianna, Atsidaftos, Eva, Ellis, Steven R., Lipton, Jeffrey M., Gazda, Hanna T., Arceci, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2008
Assuntos:
Plenary Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2518874/
https://ncbi.nlm.nih.gov/pubmed/18535205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2008-02-140012
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