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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

✍ Scribed by Schwarz, Klaus; Iolascon, Achille; Verissimo, Fatima; Trede, Nikolaus S; Horsley, Wyatt; Chen, Wen; Paw, Barry H; Hopfner, Karl-Peter; Holzmann, Karlheinz; Russo, Roberta

Book ID: 109914477
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 385 KB
Volume: 41
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng.405

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Congenital dyserythropoietic anemia type

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene

✍ Paola Bianchi; Elisa Fermo; Cristina Vercellati; Carla Boschetti; Wilma Barcelli 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 313 KB

Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. Recent studies indicated that CDAII is caused