Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein

CDA type I is a rare hereditary anemia, characterized by relative reticulocytopenia, and congenital anomalies. It is caused by biallelic mutations in one of the two genes: (i) CDAN1, encoding Codanin-1, which is implicated in nucleosome assembly and disassembly; (ii) C15orf41, which is predicted to...

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Detalles Bibliográficos
Autores principales: Russo, Roberta, Marra, Roberta, Andolfo, Immacolata, De Rosa, Gianluca, Rosato, Barbara Eleni, Manna, Francesco, Gambale, Antonella, Raia, Maddalena, Unal, Sule, Barella, Susanna, Iolascon, Achille
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6539198/
https://www.ncbi.nlm.nih.gov/pubmed/31191338
http://dx.doi.org/10.3389/fphys.2019.00621

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6539198/
https://www.ncbi.nlm.nih.gov/pubmed/31191338
http://dx.doi.org/10.3389/fphys.2019.00621

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