Title : Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.

Pub. Date : 2000 Aug

PMID : 10930379






1 Functional Relationships(s)
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1 BACKGROUND & AIMS: Most hemochromatosis patients of Northern European descent are homozygous for the C282Y mutation of HFE gene. Adenosine Monophosphate homeostatic iron regulator Homo sapiens