Metaboliske levertilstande
Metaboliske levertilstande
Metaboliske levertilstande
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Hereditær hæmokromatose<br />
(von Recklinghausen 1889)<br />
Triade:<br />
Diabetes, cirrose, melaninbaseret<br />
pigmentering<br />
(Sheldon, Lancet 1934)<br />
HFE-relateret<br />
6p21.3<br />
Missense-mutation, hyppigst C282Y<br />
alt. H63D eller S65C