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A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4

Authors :
Peter H. Mackie
Antonio Piga
Antonella Roetto
Karen Livesey
Jennifer J. Pointon
Clara Camaschella
Giuliana Barbabietola
Filomena Daraio
Alison T. Merryweather-Clarke
Kathryn J.H. Robson
Publication Year :
2016

Abstract

Hemochromatosis type 4 is an atypical hemochromatosis characterized by dominant inheritance, increased serum ferritin, normal transferrin saturation, and prevalent iron deposition in the reticuloendothelial (RE) cells rather than in hepatocytes. Heterozygous missense mutations of the iron export

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....9c8cfa703011fd5e96c757c18f4d1287
Full Text :
https://doi.org/10.1182/blood-2002-03-0693