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SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type II (CDAII) results from loss-of-function mutations in SEC23B. In contrast to humans, SEC23B-deficient mice deletion do not exhibit CDAII but die perinatally with pancreatic degeneration. Here, we demonstrate that expression of the full SEC23A protein (the SEC...

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Detalles Bibliográficos
Autores principales:	King, Richard, Lin, Zesen, Balbin-Cuesta, Ginette, Myers, Gregg, Friedman, Ann, Zhu, Guojing, McGee, Beth, Saunders, Thomas L., Kurita, Ryo, Nakamura, Yukio, Engel, James Douglas, Reddy, Pavan, Khoriaty, Rami
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Association for the Advancement of Science 2021
Materias:	Biomedicine and Life Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612686/ https://www.ncbi.nlm.nih.gov/pubmed/34818036 http://dx.doi.org/10.1126/sciadv.abj5293

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