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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Bibliografische gegevens
Hoofdauteurs: Satchwell, Timothy J., Pellegrin, Stephanie, Bianchi, Paola, Hawley, Bethan R., Gampel, Alexandra, Mordue, Kathryn E., Budnik, Annika, Fermo, Elisa, Barcellini, Wilma, Stephens, David J., van den Akker, Emile, Toye, Ashley M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Ferrata Storti Foundation 2013
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Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3815181/
https://ncbi.nlm.nih.gov/pubmed/23935019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2013.085522
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