Articles with "a260s variant" as a keyword



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The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant

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Published in 2019 at "American Journal of Hematology"

DOI: 10.1002/ajh.25613

Abstract: The erythroferrone (ERFE) is the erythroid regulator of hepatic iron metabolism by suppressing the expression of hepcidin. Congenital dyserythropoietic anemia type II (CDAII) is an inherited hyporegenerative anemia due to biallelic mutations in the SEC23B… read more here.

Keywords: hepatic iron; iron metabolism; erfe a260s; a260s variant ... See more keywords