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New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia

Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and inv...

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Détails bibliographiques
Publié dans:Indian J Hematol Blood Transfus
Auteurs principaux: D’Alcamo, Elena, Agrigento, V., Pitrolo, L., Sclafani, S., Barone, R., Calvaruso, G., Buffa, V., Maggio, A.
Format: Artigo
Langue:Inglês
Publié: Springer India 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4925544/
https://ncbi.nlm.nih.gov/pubmed/27408412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12288-015-0633-z
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