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...
Glavni autori: | , , , , , , , , , , , |
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Format: | Članak |
Jezik: | English |
Izdano: |
Ferrata Storti Foundation
2013-11-01
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Serija: | Haematologica |
Online pristup: | https://haematologica.org/article/view/6843 |