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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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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 |
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