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SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells

Biallelic pathogenic variants in the SEC23B gene cause congenital dyserythropoietic anemia type II (CDA II), a rare hereditary disorder hallmarked by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypo-glycosylation of some red blood cell membrane proteins. Abno...

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Detalles Bibliográficos
Autores principales:	Rosato, Barbara Eleni, Marra, Roberta, D’Onofrio, Vanessa, Del Giudice, Federica, Della Monica, Simone, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835815/ https://www.ncbi.nlm.nih.gov/pubmed/35163229 http://dx.doi.org/10.3390/ijms23031304

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