Exploiting Pre-rRNA Processing in Diamond Blackfan Anemia Gene Discovery and Diagnosis

Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single-copy deletions have been identified in 1...

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Publicado en:Am J Hematol
Autores principales: Farrar, Jason E., Quarello, Paola, Fisher, Ross, O’Brien, Kelly A., Aspesi, Anna, Parrella, Sara, Henson, Adrianna L., Seidel, Nancy E., Atsidaftos, Eva, Prakash, Supraja, Bari, Shahla, Garelli, Emanuela, Arceci, Robert J., Dianzani, Irma, Ramenghi, Ugo, Vlachos, Adrianna, Lipton, Jeffrey M., Bodine, David M., Ellis, Steven R.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4332597/
https://ncbi.nlm.nih.gov/pubmed/25042156
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.23807
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