Browsing Dahili Tıp Bilimleri Bölümü by Author "Iolascon, Achille"
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Characterization Of Two Cases Of Congenital Dyserythropoietic Anemia Type I Shed Light On The Uncharacterized C15Orf41 Protein
Russo, Roberta; Marra, Roberta; Andolfo, Immacolata; De Rosa, Gianluca; Rosato, Barbara Eleni; Manna, Francesco; Gambale, Antonella; Raia, Maddalena; Unal, Sule; Barella, Susanna; Iolascon, Achille (2019)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 ...