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Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

BACKGROUND: Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are available only in specialized laboratories. The recent identification of SEC23B mutati...

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Detalles Bibliográficos
Autores principales: Punzo, Francesca, Bertoli-Avella, Aida M, Scianguetta, Saverio, Della Ragione, Fulvio, Casale, Maddalena, Ronzoni, Luisa, Cappellini, Maria D, Forni, Gianluca, Oostra, Ben A, Perrotta, Silverio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269369/
https://www.ncbi.nlm.nih.gov/pubmed/22208203
http://dx.doi.org/10.1186/1750-1172-6-89