Article
Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.
Gastroenterology - 1 Feb 2007
Gouya Laurent, Muzeau Francoise, Robreau Anne-Marie, Letteron Philippe, Couchi Eric, Lyoumi Saïd, Deybach Jean-Charles, Puy Herve, Fleming Robert, Demant Peter, Beaumont Carole, Grandchamp Bernard
Abstract excerpt
BACKGROUND & AIMS: Genetic hemochromatosis is one of the most common genetic disorders, with progressive tissue iron overload leading to severe clinical complications. In Northern European populations, genetic hemochromatosis is usually caused by homozygosity for the C282Y mutation in the HFE protein. However, penetrance of this mutation is incomplete, suggesting that other genetic and environmental factors...
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