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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2008
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Plenary Paper
Accesso online: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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