Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B(12)) absorption in vivo

Amnionless (AMN) and cubilin gene products appear to be essential functional subunits of an endocytic receptor called cubam. Mutation of either gene causes autosomal recessive Imerslund-Gräsbeck syndrome (I-GS, OMIM no. 261100) in humans, a disorder characterized by selective intestinal malabsorptio...

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Autors principals: He, Qianchuan, Madsen, Mette, Kilkenney, Adam, Gregory, Brittany, Christensen, Erik I., Vorum, Henrik, Højrup, Peter, Schäffer, Alejandro A., Kirkness, Ewen F., Tanner, Stephan M., de la Chapelle, Albert, Giger, Urs, Moestrup, Søren K., Fyfe, John C.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Hematology 2005
Matèries:
Red Cells
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895201/
https://ncbi.nlm.nih.gov/pubmed/15845892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-03-1197
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