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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2013
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Articles
Acesso em linha: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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