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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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4906273/
https://ncbi.nlm.nih.gov/pubmed/27297878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep27802
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