Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.
Rivard
Sylvain R
SR
Lanzara
Carmela
C
Grimard
Doria
D
Carella
Massimo
M
Simard
Hervey
H
Ficarella
Romina
R
Simard
Raynald
R
D'Adamo
Adamo Pio
AP
De Braekeleer
Marc
M
Gasparini
Paolo
P
D000328:Adult; D000368:Aged; D002170:Canada; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005602:France / Q000208:ethnology; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007728:Kupffer Cells / Q000378:metabolism; D008264:Macrophages / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D000098742:Ferroportin
D027682:Cation Transport Proteins; D000098742:Ferroportin