A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia.
Saja
Khalid
K
Bignell
Patricia
P
Robson
Kathryn
K
Provan
Drew
D
D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood*; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000098742:Ferroportin
D027682:Cation Transport Proteins; D000098742:Ferroportin; D005293:Ferritins