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Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism

Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have...

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Detalles Bibliográficos
Autores principales: Chiabrando, Deborah, Tolosano, Emanuela
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864449/
https://www.ncbi.nlm.nih.gov/pubmed/20454576
http://dx.doi.org/10.1155/2010/790632