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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Hematol
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2014
Gaiak:
Article
Sarrera elektronikoa: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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