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Hémochromatose

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HEMOCHROMATOSE GENETIQUE HFE1<br />

HFE 1 chromosome 6 (Nat Genet 1996, 13, 399- 408)<br />

H63D<br />

H65C<br />

Fer lié à la transferrine<br />

HEPCIDINE ?<br />

Béta 2 microglob<br />

S<br />

S<br />

Re de la transferrine<br />

Membrane plasmatique<br />

Pas de mutation C282 Y : lien normal avec la béta 2 microglobuline.<br />

HFE joue son rôle régulateur

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