Article
Abnormal regulation of HFE mRNA expression does not contribute to primary iron overload.
Haematologica - 1 Aug 2000
Vercesi E, Cerani P, Rolandi V, Rovati A, Bergamaschi G
Abstract excerpt
BACKGROUND AND OBJECTIVES: Hereditary hemochromatosis (HHC) is a common, recessively inherited, genetic disorder associated with an abnormality of the HFE gene. Subjects homozygous for a point mutation in the gene coding sequence, leading to the amino acid substitution C282Y, are usually affected by the disease. A second point mutation, causing the amino acid substitution H63D, has been described, and compound...
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