Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

SEC23B gene encodes an essential component of the coat protein complex II (COPII)-coated vesicles. Mutations in this gene cause the vast majority the congenital dyserythropoietic anemia Type II (CDA II), a rare disorder resulting from impaired erythropoiesis. Here, we investigated 28 CDA II patients...

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Hlavní autoři: Russo, Roberta, Esposito, Maria Rosaria, Asci, Roberta, Gambale, Antonella, Perrotta, Silverio, Ramenghi, Ugo, Forni, Gian Luca, Uygun, Vedat, Delaunay, Jean, Iolascon, Achille
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley Subscription Services, Inc., A Wiley Company 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3015065/
https://ncbi.nlm.nih.gov/pubmed/20941788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.21866
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