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Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

✍ Scribed by Orly Dgany; Nili Avidan; Jean Delaunay; Tatyana Krasnov; Lea Shalmon; Hanna Shalev; Tal Eidelitz-Markus; Joseph Kapelushnik; Daniel Cattan; Alexandre Pariente; Michel Tulliez; Aurore Crétien; Pierre-Olivier Schischmanoff; Achille Iolascon; Eithan Fibach; Ariel Koren; Jochen Rössler; Martine Le Merrer; Isaac Yaniv; Rina Zaizov; Edna Ben-Asher; Tsvyia Olender; Doron Lancet; Jacques S. Beckmann; Hannah Tamary


Book ID
117854083
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
710 KB
Volume
71
Category
Article
ISSN
0002-9297

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Congenital dyserythropoietic anemia type
✍ 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