Article
Genetic hemochromatosis update.
Acta gastro-enterologica Belgica - 1 Jan 2000
Brissot P, Le Lan C, Lorho R, Gaboriau F, Lescoat G, Loréal O
Abstract excerpt
Hereditary Hemochromatosis is an autosomal recessive disease, characterized by chronic iron overload. It is mainly due to mutations of the HFE-1 gene. In the large majority of patients, the substitution of tyrosine for cysteine at amino acid 282 (C282Y) is found at the homozygous state. Since the HFE-1 hemochromatosis identification, several other entities of iron overload have been individualized. In the present...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.