The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70

Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype. In at least 70% of cases, DBA is related to a haploinsufficient germ line mutation in a ribosomal protein (RP) gene. Additional cases have been associated with mutations in...

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Publicat a:Blood Adv
Autors principals: Gastou, Marc, Rio, Sarah, Dussiot, Michaël, Karboul, Narjesse, Moniz, Hélène, Leblanc, Thierry, Sevin, Margaux, Gonin, Patrick, Larghéro, Jérome, Garrido, Carmen, Narla, Anupama, Mohandas, Narla, Vainchenker, William, Hermine, Olivier, Solary, Eric, Da Costa, Lydie
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2017
Matèries:
Red Cells, Iron, and Erythropoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5728147/
https://ncbi.nlm.nih.gov/pubmed/29296843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2017008078
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