Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.
Gérolami
V
V
Inserm U613, EFS - Bretagne, 46, rue Félix Le Dantec, 29200 Brest, France.
Le Gac
G
G
Mercier
L
L
Nezri
M
M
Bergé-Lefranc
J-L
JL
Férec
C
C
D000328:Adult; D017668:Age of Onset; D027682:Cation Transport Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000096:biosynthesis; D006432:Hemochromatosis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D007558:Italy; D009154:Mutation; D011990:Receptors, Transferrin / Q000235:genetics*; D000098742:Ferroportin
D027682:Cation Transport Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin; D005293:Ferritins; D007501:Iron