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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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Principais autores: Roberta Russo, Roberta Marra, Immacolata Andolfo, Gianluca De Rosa, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Maddalena Raia, Sule Unal, Susanna Barella, Achille Iolascon
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019-05-01
Serier:Frontiers in Physiology
Fag:
CDA (I–III)
C15ORF41
functional characterization of proteins
genetic testing
anemia
Online adgang:https://www.frontiersin.org/article/10.3389/fphys.2019.00621/full
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