Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations. Patients exhibit characteristic phenotypes including multinucleate erythroblasts, erythrocytes with hypoglycosylated membrane proteins and an apparent double plasma memb...

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Bibliographic Details
Main Authors: Timothy J. Satchwell, Stephanie Pellegrin, Paola Bianchi, Bethan R. Hawley, Alexandra Gampel, Kathryn E. Mordue, Annika Budnik, Elisa Fermo, Wilma Barcellini, David J. Stephens, Emile van den Akker, Ashley M. Toye
Format: Article
Language:English
Published: Ferrata Storti Foundation 2013-11-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/6843

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https://haematologica.org/article/view/6843

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