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Hypoxia-inducible factor 2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency

Manganese is an essential yet potentially toxic metal. Initially reported in 2012, mutations in SLC30A10 are the first known inherited cause of manganese excess. SLC30A10 is an apical membrane transport protein that exports manganese from hepatocytes into bile and from enterocytes into the lumen of...

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Detalles Bibliográficos
Autores principales: Prajapati, Milankumar, Zhang, Jared Z., Mercadante, Courtney J., Kowalski, Heather L., Delaney, Bradley, Anderson, Jessica A., Guo, Shuling, Aghajan, Mariam, Bartnikas, Thomas B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980069/
https://www.ncbi.nlm.nih.gov/pubmed/36865210
http://dx.doi.org/10.1101/2023.02.20.529270