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A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. Mutations in the gene encoding ribosomal protein S19 (RPS19) have been identified in approximately 25% of DBA families. Most of these mutations disrupt either t...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Devlin, Emily E., DaCosta, Lydie, Mohandas, Narla, Elliott, Gene, Bodine, David M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Hematology 2010
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2974590/
https://ncbi.nlm.nih.gov/pubmed/20606162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-03-275776
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