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Article

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

Scientific reports - 14 Jun 2016

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

Abstract excerpt

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 previously reported that SEC23B-deficient mice die perinatally, exhibiting massive pancreatic degeneration and that mice...

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Identifiers

PMID: 27297878
DOI: 10.1038/srep27802
PMCID: PMC4906273

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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