Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type II, a recessive disorder of erythroid differentiation, is due to mutations in SEC23B, a component of the core trafficking machinery COPII. In no case homozygosity or compound heterozygosity for nonsense mutation(s) was found. This study represents the first d...

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Detalhes bibliográficos
Main Authors: Russo, Roberta, Langella, Concetta, Esposito, Maria Rosaria, Gambale, Antonella, Vitiello, Francesco, Vallefuoco, Fara, Ek, Torben, Yang, Elizabeth, Iolascon, Achille
Formato: Artigo
Idioma:Inglês
Publicado em: Academic Press 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3651933/
https://ncbi.nlm.nih.gov/pubmed/23453696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2013.02.003
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