Article
Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.
Blood cells, molecules & diseases - 1 Jan 2014
Cézard Christine, Rabbind Singh Amrathlal, Le Gac Gérald, Gourlaouen Isabelle, Ferec Claude, Rochette Jacques
Abstract excerpt
Most adults affected with hereditary hemochromatosis are homozygous for a single point mutation of HFE (p.Cys282Tyr). Apart from the compound heterozygous state for the p.Cys282Tyr mutant and the widespread p.His63Asp variant allele, other rare HFE mutations can be found in trans and may have clinical impact. In the present report we describe the structural and functional consequences of a new mutation, namely...
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