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Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice

In humans, loss of function mutations in SEC23B result in Congenital Dyserythropoietic Anemia type II (CDAII), a disease limited to defective erythroid development. Patients with two nonsense SEC23B mutations have not been reported, suggesting that complete SEC23B deficiency might be lethal. We prev...

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Detalles Bibliográficos
Autores principales:	Khoriaty, Rami, Everett, Lesley, Chase, Jennifer, Zhu, Guojing, Hoenerhoff, Mark, McKnight, Brooke, Vasievich, Matthew P., Zhang, Bin, Tomberg, Kärt, Williams, John, Maillard, Ivan, Ginsburg, David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906273/ https://www.ncbi.nlm.nih.gov/pubmed/27297878 http://dx.doi.org/10.1038/srep27802

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