A valine deletion of ferroportin 1: A common mutation in hemochromatosis type 4? [2]

Blood

Volumn 100, Issue 2, 2002, Pages 733-734

  Roetto, Antonella ^a   Merryweather Clarke, Alison T ^a   Daraio, Filomena ^a   Livesey, Karen ^a   Pointon, Jennifer J ^a   Barbabietola, Giuliana ^a   Piga, Antonio ^a   Mackie, Peter H ^a   Robson, Kathryn J H ^a   Camaschella, Clara ^a  

^a UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FERROPORTIN 1; MUTANT PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; CASE REPORT; DELETION MUTANT; FEMALE; FPN1 GENE; GENE; HEMOCHROMATOSIS; HUMAN; LETTER; MALE; PRIORITY JOURNAL; PROTEIN DETERMINATION;

EID: 0037100383     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-03-0693     Document Type: Letter

References (10)

1. Positional cloning of zebrafish ferroportin identifies a conserved vertebrate iron exporter
2. A novel mammalian iron-regulated protein involved in intracellular iron metabolism
3. A novel duodenal iron-regulated, IREG-1, implicated in the basolateral transfer of iron to the circulation
4. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
5. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
6. Magnetic susceptibility measurement of human iron stores
7. Non invasive methods for early detection of hereditary hemochromatosis
8. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the Ferroportin 1 gene (SLC11A3)
9. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
10. Ferroportin mutation in autosomal dominant hemochromatosis: Loss of function, gain in understanding